7,783 results match your criteria Congenital Myopathies


Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Am J Med Genet A 2018 Dec 18. Epub 2018 Dec 18.

Division of Neuromuscular and Neurodegenerative Disorders, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy.

Kyphoscoliotic Ehlers-Danlos syndrome associated with FKBP14 (FKBP14-kEDS) is an ultrarare autosomal recessive disorder reported in less than 30 individuals so far. In its original description, emphasis was put on the mild muscle involvement. Further reports confirm that FKBP14-kEDS is distinguishable from primary muscle disorders by the lack of progressive muscle disease. Read More

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http://dx.doi.org/10.1002/ajmg.a.61006DOI Listing
December 2018

LARGE expression in different types of muscular dystrophies other than dystroglycanopathy.

BMC Neurol 2018 Dec 15;18(1):207. Epub 2018 Dec 15.

Department of Medical Biology, Hacettepe University Faculty of Medicine, 06100 Sihhiye, Ankara, Turkey.

Background: Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses. An important enzyme, known as Like-acetylglucosaminyltransferase (LARGE), has been shown to transfer repeating units of -glucuronic acid-β1,3-xylose-α1,3- (matriglycan) to αDG that is required for functional receptor as an extracellular matrix protein scaffold. The reduction in the amount of LARGE-dependent matriglycan result in heterogeneous forms of dystroglycanopathy that is associated with hypoglycosylation of αDG and a consequent lack of ligand-binding activity. Read More

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https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-
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http://dx.doi.org/10.1186/s12883-018-1207-0DOI Listing
December 2018
1 Read

FGF10 Signaling in Heart Development, Homeostasis, Disease and Repair.

Front Genet 2018 28;9:599. Epub 2018 Nov 28.

Aix-Marseille Univ, INSERM, MMG, U1251, Marseille, France.

Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and congenital heart defects, are the leading cause of mortality in industrialized countries. Fibroblast Growth Factors (FGFs) are involved in a variety of cellular responses including proliferation, differentiation, and migration. Read More

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http://dx.doi.org/10.3389/fgene.2018.00599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279889PMC
November 2018

The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies.

Int J Mol Sci 2018 Dec 10;19(12). Epub 2018 Dec 10.

Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.

Point mutations in genes encoding isoforms of skeletal muscle tropomyosin may cause nemaline myopathy, cap myopathy (Cap), congenital fiber-type disproportion (CFTD), and distal arthrogryposis. The molecular mechanisms of muscle dysfunction in these diseases remain unclear. We studied the effect of the E173A, R90P, E150A, and A155T myopathy-causing substitutions in γ-tropomyosin (Tpm3. Read More

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http://dx.doi.org/10.3390/ijms19123975DOI Listing
December 2018

Neuromuscular transmission defects in myopathies: rare but worth searching for.

Muscle Nerve 2018 Dec 7. Epub 2018 Dec 7.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905.

Introduction: Decremental responses in repetitive nerve stimulation (RNS) have been reported in a few hereditary myopathies. We examined the frequency of decrement in a cohort of myopathy patients.

Methods: We reviewed all patients referred for myopathy who underwent RNS between January 2007 and May 2017. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.26393
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http://dx.doi.org/10.1002/mus.26393DOI Listing
December 2018
1 Read

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.

Nat Commun 2018 11 19;9(1):4848. Epub 2018 Nov 19.

Pharmaceutical Biochemistry Group, School of Pharmaceutical Sciences, University of Lausanne, University of Geneva, CMU 5-6, Rue Michel-Servet 1, Geneva, 1211, Switzerland.

X-linked myotubular myopathy (XLMTM, also known as XLCNM) is a severe congenital muscular disorder due to mutations in the myotubularin gene, MTM1. It is characterized by generalized hypotonia, leading to neonatal death of most patients. No specific treatment exists. Read More

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http://www.nature.com/articles/s41467-018-07058-4
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http://dx.doi.org/10.1038/s41467-018-07058-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243013PMC
November 2018
5 Reads

Tamoxifen therapy in a murine model of myotubular myopathy.

Nat Commun 2018 11 19;9(1):4849. Epub 2018 Nov 19.

Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON, CAN M5G 0A4, Canada.

Myotubular myopathy (MTM) is a severe X-linked disease without existing therapies. Here, we show that tamoxifen ameliorates MTM-related histopathological and functional abnormalities in mice, and nearly doubles survival. The beneficial effects of tamoxifen are mediated primarily via estrogen receptor signaling, as demonstrated through in vitro studies and in vivo phenotypic rescue with estradiol. Read More

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http://www.nature.com/articles/s41467-018-07057-5
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http://dx.doi.org/10.1038/s41467-018-07057-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6242823PMC
November 2018
8 Reads

Needle Electromyography and Histopathologic Correlation in Myopathies.

Muscle Nerve 2018 Nov 10. Epub 2018 Nov 10.

Mayo Clinic in Jacksonville, FL.

Introduction: Needle electromyography (EMG) findings help confirm myopathy and may indicate specific pathologic changes on muscle biopsy.

Methods: Retrospective chart review of 218 consecutive patients referred for muscle biopsy. Presence of specific needle EMG findings was correlated to pathologic findings of inflammation, necrosis, splitting, and vacuolar changes. Read More

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http://dx.doi.org/10.1002/mus.26381DOI Listing
November 2018
1 Read

About congenital myopathies and neuromuscular monitorization.

Authors:
A M González

Rev Esp Anestesiol Reanim 2018 Dec 7;65(10):601-602. Epub 2018 Nov 7.

Servicio de Anestesia, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, España. Electronic address:

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http://dx.doi.org/10.1016/j.redar.2018.10.002DOI Listing
December 2018
1 Read

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Muscle Nerve 2018 Nov 9. Epub 2018 Nov 9.

Division of Newborn Medicine, Division of Genetics and Genomics, and The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.

Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and increased central nuclei. SPEG (striated preferentially expressed protein kinase) mutations have recently been identified in 7 CM patients (6 with CNMs). We report 2 additional patients with SPEG mutations expanding the phenotype and evaluate genotype-phenotype correlations associated with SPEG mutations. Read More

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http://doi.wiley.com/10.1002/mus.26378
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http://dx.doi.org/10.1002/mus.26378DOI Listing
November 2018
4 Reads

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.

Neurotherapeutics 2018 Oct;15(4):885-899

Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.

Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of congenital myopathies. Historically, RYR1-RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy. Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. Read More

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http://link.springer.com/10.1007/s13311-018-00677-1
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http://dx.doi.org/10.1007/s13311-018-00677-1DOI Listing
October 2018
3 Reads

Whole-body MRI and pathological findings in adult patients with myopathies.

Skeletal Radiol 2018 Oct 30. Epub 2018 Oct 30.

Department of Internal Medicine, Hospital Clinic, Universitat de Barcelona (UB) and CIBERER, Villarroel 170, 08036, Barcelona, Spain.

Magnetic resonance imaging (MRI) is considered the most sensitive and specific imaging technique for the detection of muscle diseases related to myopathies. Since 2008, the use of whole-body MRI (WBMRI) to evaluate myopathies has improved due to technical advances such as rolling table platform and parallel imaging, which enable rapid assessment of the entire musculoskeletal system with high-quality images. WBMRI protocols should include T1-weighted and short-tau inversion recovery (STIR), which provide the basic pulse sequences for studying myopathies, in order to detect fatty infiltration/muscle atrophy and muscle edema, respectively. Read More

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http://link.springer.com/10.1007/s00256-018-3107-1
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http://dx.doi.org/10.1007/s00256-018-3107-1DOI Listing
October 2018
9 Reads

Fontan Failure Secondary to Charcot-Marie-Tooth-Induced Phrenic Neuropathy.

Tex Heart Inst J 2018 08 1;45(4):270-272. Epub 2018 Aug 1.

Charcot-Marie-Tooth disease comprises a vast array of defects in myelin integrity that causes progressive peripheral sensorimotor neuropathy. It is the most prevalent inherited peripheral neuropathy, and it can affect the management of coexisting medical conditions. We report the case of a 25-year-old woman who had undergone successful Fontan surgery during childhood, but her Fontan circulation failed as a result of diaphragmatic paresis caused by Charcot-Marie-Tooth disease type 1A. Read More

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http://thij.org/doi/10.14503/THIJ-17-6337
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http://dx.doi.org/10.14503/THIJ-17-6337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183634PMC
August 2018
5 Reads

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

J Neuropathol Exp Neurol 2018 Dec;77(12):1101-1114

Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France.

Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, we performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes presenting pathogenic autosomal dominant or autosomal recessive (AR) mutations located in different TTN domains. We identified a consistent pattern characterized by diverse defects in oxidative staining with prominent nuclear internalization in congenital phenotypes (AR-CM) (n = 10), ± necrotic/regenerative fibers, associated with endomysial fibrosis and rimmed vacuoles (RVs) in AR early-onset Emery-Dreifuss-like (AR-ED) (n = 4) and AR adult-onset distal myopathies (n = 4), and cytoplasmic bodies (CBs) as predominant finding in hereditary myopathy with early respiratory failure (HMERF) patients (n = 5). Read More

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly095DOI Listing
December 2018
9 Reads

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.

Neurotherapeutics 2018 Oct;15(4):872-884

Department of Neurology, The Ohio State University, 395 West 12th Avenue, Columbus, OH, 43210, USA.

Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and type 2 is caused by a CCTG repeat expansion in the CNBP gene. Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results in different phenotypic subtypes with variable onset from congenital to very late-onset as well as variable signs and symptoms. Read More

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http://link.springer.com/10.1007/s13311-018-00679-z
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http://dx.doi.org/10.1007/s13311-018-00679-zDOI Listing
October 2018
15 Reads

Atrial septal defect and exercise capacity: value of cardio-pulmonary exercise test in assessment and follow-up.

J Thorac Dis 2018 Sep;10(Suppl 24):S2864-S2873

Paediatric and Adult Congenital Cardiology Department, M3C Regional Reference CHD Centre, University Hospital, Montpellier, France.

Nearly four decades ago, the World Health Organization stated that functional capacity explorations best reflected the impact of a chronic disease on quality of life. Today, cardio-pulmonary exercise test (CPET) is recommended in the follow-up of patients with congenital heart diseases (CHDs). Indeed, the maximum oxygen uptake (VO) and the ventilatory efficiency (VE/VCO slope) correlate with both the prognosis and the quality of life in this population. Read More

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http://jtd.amegroups.com/article/view/17837/18008
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http://dx.doi.org/10.21037/jtd.2017.11.30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174142PMC
September 2018
2 Reads

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Curr Med Res Opin 2018 Nov 9:1-10. Epub 2018 Nov 9.

d Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert Debré , Service d'endocrinologie diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l'Insulino-Sécrétion et de l'Insulino-Sensibilité (PRISIS) , Paris , France.

Background: Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. Read More

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https://www.tandfonline.com/doi/full/10.1080/03007995.2018.1
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http://dx.doi.org/10.1080/03007995.2018.1533459DOI Listing
November 2018
5 Reads

Reducing dynamin 2 (DNM2) rescues -related dominant centronuclear myopathy.

Proc Natl Acad Sci U S A 2018 10 5;115(43):11066-11071. Epub 2018 Oct 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France;

Centronuclear myopathies (CNM) are a group of severe muscle diseases for which no effective therapy is currently available. We have previously shown that reduction of the large GTPase DNM2 in a mouse model of the X-linked form, due to loss of myotubularin phosphatase MTM1, prevents the development of the skeletal muscle pathophysiology. As is mutated in autosomal dominant forms, here we tested whether DNM2 reduction can rescue -related CNM in a knock-in mouse harboring the p. Read More

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http://dx.doi.org/10.1073/pnas.1808170115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205463PMC
October 2018
11 Reads

Commentary on "Stepping Activity in Children With Congenital Myotonic Dystrophy".

Pediatr Phys Ther 2018 10;30(4):340

Department of Pediatrics, University of Massachusetts Medical School Worcester, Massachusetts School of Health and Rehabilitation Sciences, MGH Institute of Health Professions Boston, Massachusetts.

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http://dx.doi.org/10.1097/PEP.0000000000000545DOI Listing
October 2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Orphanet J Rare Dis 2018 Sep 26;13(1):170. Epub 2018 Sep 26.

Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.

Background: Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes. Read More

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http://dx.doi.org/10.1186/s13023-018-0863-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158856PMC
September 2018
5 Reads

Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles.

Front Physiol 2018 7;9:1277. Epub 2018 Sep 7.

CNRS UMR5310, INSERM U1217, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

Since the discovery of the inner nuclear transmembrane protein emerin in the early 1990s, nuclear envelope (NE) components and related involvement in nuclei integrity and functionality have been highly investigated. The NE is composed of two distinct lipid bilayers described as the inner (INM) and outer (ONM) nuclear membrane. NE proteins can be specifically "integrated" in the INM (such as emerin and SUN proteins) or in the ONM such as nesprins. Read More

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http://dx.doi.org/10.3389/fphys.2018.01277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137955PMC
September 2018

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation.

Neuromuscul Disord 2018 Nov 13;28(11):952-955. Epub 2018 Aug 13.

Pathology Department and Neuromuscular Unit, Bellvitge Biomedical Research Institute-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.

X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the MTM1 gene. Female carriers are believed to be usually asymptomatic; nevertheless, recent reports have displayed a wide a spectrum of clinical involvement in females suggesting that MTM1 mutations might be underestimated in this population. Here we report a 55-year-old woman manifesting with an abrupt respiratory decline, whose respiratory function tests revealed a severe restrictive ventilatory defect. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.08.003DOI Listing
November 2018
2 Reads

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Hum Mol Genet 2018 Dec;27(24):4263-4272

The Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.

Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, ∼50% of patients with a congenital myopathy remain without a genetic diagnosis following screening of known disease genes. We performed exome sequencing on two consanguineous probands diagnosed with a congenital myopathy and muscle biopsy showing selective atrophy/hypotrophy or absence of type II myofibres. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy320DOI Listing
December 2018
8 Reads

Myofibrillar myopathy in the genomic context.

J Appl Genet 2018 Nov 10;59(4):431-439. Epub 2018 Sep 10.

Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawinskiego St., 02-106, Warsaw, Poland.

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity and overlapping symptoms. In addition, precise diagnosis does not always explain the disease etiopathology or the highly variable clinical course even among patients diagnosed with the same type of myopathy. Read More

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http://dx.doi.org/10.1007/s13353-018-0463-4DOI Listing
November 2018
2 Reads

Long period of relative quiescence in distal-type epithelioid sarcoma of the forearm with recurrence after surgery: A case report.

Medicine (Baltimore) 2018 Sep;97(36):e12276

Department of Pathology, First Affiliated Hospital and College of Basic Medical Sciences of China Medical University, Shenyang, China.

Background: Epithelioid sarcoma (ES) is a rare malignant mesenchymal tumor that only accounts for 0.6% to 1.0% of all cases of sarcomas. Read More

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http://dx.doi.org/10.1097/MD.0000000000012276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133439PMC
September 2018

Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.

Methods Mol Biol 2018 ;1828:79-90

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Antisense-mediated exon skipping and exon inclusion have proven to be powerful tools for treating neuromuscular diseases. The approval of Exondys 51 (eteplirsen) and Spinraza (nusinersen) for the treatment of patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) was the most noteworthy accomplishment in 2016. Exon skipping uses short DNA-like molecules called antisense oligonucleotides (AONs) to correct the disrupted reading frame, allowing the production of functional quasi-dystrophin proteins, and ameliorate the progression of the disease. Read More

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http://dx.doi.org/10.1007/978-1-4939-8651-4_5DOI Listing
January 2018

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

Methods Mol Biol 2018 ;1828:31-55

Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada.

Exon skipping is a therapeutic approach that is feasible for various genetic diseases and has been studied and developed for over two decades. This approach uses antisense oligonucleotides (AON) to modify the splicing of pre-mRNA to correct the mutation responsible for a disease, or to suppress a particular gene expression, as in allergic diseases. Antisense-mediated exon skipping is most extensively studied in Duchenne muscular dystrophy (DMD) and has developed from in vitro proof-of-concept studies to clinical trials targeting various single exons such as exon 45 (casimersen), exon 53 (NS-065/NCNP-01, golodirsen), and exon 51 (eteplirsen). Read More

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http://dx.doi.org/10.1007/978-1-4939-8651-4_2DOI Listing
January 2018
2 Reads

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Hum Mutat 2018 Dec 11;39(12):1980-1994. Epub 2018 Oct 11.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.

SH3 and cysteine-rich domain-containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. Here, we report 18 patients carrying a homozygous p.(Trp284Ser) STAC3 variant in addition to a patient compound heterozygous for the p. Read More

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http://doi.wiley.com/10.1002/humu.23635
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http://dx.doi.org/10.1002/humu.23635DOI Listing
December 2018
5 Reads

A Rare Case of Severe Congenital RYR1-Associated Myopathy.

Case Rep Genet 2018 1;2018:6184185. Epub 2018 Aug 1.

Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, Italy.

Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that required mechanical ventilation, clubfoot, and other dysmorphic features. The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13. Read More

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https://www.hindawi.com/journals/crig/2018/6184185/
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http://dx.doi.org/10.1155/2018/6184185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092990PMC
August 2018
7 Reads

Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice.

Nat Commun 2018 08 27;9(1):3448. Epub 2018 Aug 27.

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, Charlotte, NC, 28203, USA.

O-mannosylated α-dystroglycan (α-DG) serves as receptors for cell-cell and cell-extracellular matrix adhesion and signaling. Hypoglycosylation of α-DG is involved in cancer progression and underlies dystroglycanopathy with aberrant neuronal development. Here we report that ribitol, a pentose alcohol with previously unknown function in mammalian cells, partially restores functional O-mannosylation of α-DG (F-α-DG) in the dystroglycanopathy model containing a P448L mutation in fukutin-related protein (FKRP) gene, which is clinically associated with severe congenital muscular dystrophy. Read More

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http://www.nature.com/articles/s41467-018-05990-z
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http://dx.doi.org/10.1038/s41467-018-05990-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110760PMC
August 2018
6 Reads

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient.

Case Rep Genet 2018 25;2018:3028145. Epub 2018 Jul 25.

Laboratory of Genomic Diagnostics, Center of Molecular Medicine, Department of Medical Chemistry and Biochemistry, Medical University Sofia, Zdrave Str. 2, 1431 Sofia, Bulgaria.

Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. The most common form worldwide is considered to be merosin-deficient muscle dystrophy type 1A, called MDC1A (due to laminin-2 defects as a result of gene mutation), accounting for 30-40% of total cases of CMD. The exact molecular and clinical diagnoses, respectively, are a prerequisite for the most effective treatment; sometimes orphan drugs exist for some rare diseases. Read More

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http://dx.doi.org/10.1155/2018/3028145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083551PMC
July 2018
1 Read

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

JIMD Rep 2018 Aug 17. Epub 2018 Aug 17.

Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.

Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Read More

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http://dx.doi.org/10.1007/8904_2018_128DOI Listing
August 2018
2 Reads

Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

Acta Neurol Scand 2018 Dec 14;138(6):523-530. Epub 2018 Aug 14.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genova, Italy.

Objectivies: Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, congenital heart defects. Epilepsy can be another feature but there are few data about the types of seizures and long term prognosis. The aim of this work was to analyse the electroclinical phenotype and the long-term outcome in patients with monosomy 1p36 syndrome and epilepsy. Read More

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http://dx.doi.org/10.1111/ane.13006DOI Listing
December 2018
2 Reads

Centronuclear myopathies under attack: A plethora of therapeutic targets.

J Neuromuscul Dis 2018 ;5(4):387-406

Centronuclear myopathies are a group of congenital myopathies characterized by severe muscle weakness, genetic heterogeneity, and defects in the structural organization of muscle fibers. Their names are derived from the central position of nuclei on biopsies, while they are at the fiber periphery under normal conditions. No specific therapy exists yet for these debilitating diseases. Read More

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http://dx.doi.org/10.3233/JND-180309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218136PMC
January 2018

Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial.

Neuromuscul Disord 2018 Sep 1;28(9):731-740. Epub 2018 Jul 1.

Pediatric noninvasive ventilation and sleep unit, Necker university hospital, AP-HP, 149 rue de Sèvres, 75015 Paris, France; ASV Santé, Gennevilliers, France.

Congenital muscular dystrophies and congenital myopathies represent a heterogeneous group of disorders of the muscle characterized by an early onset of hypotonia and muscle weakness and consequently, a high respiratory morbidity and mortality. The diagnosis and characterization of the weakness of the respiratory muscles is crucial for clinical management of patients and the evaluation of innovative therapies. Routine respiratory evaluation is based on noninvasive volitional tests, such as the measurement of lung volumes, spirometry, and maximal static pressures, which may be difficult or impossible to obtain in young children. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183012
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http://dx.doi.org/10.1016/j.nmd.2018.06.013DOI Listing
September 2018
5 Reads

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney.

BMJ Case Rep 2018 Aug 9;2018. Epub 2018 Aug 9.

Neonatology, Fernandez Hospital Hyderabad, Telangana, India.

We report a case of a term baby presenting with neonatal cholestasis and upper limb flexion deformity on day 4 of life. On further evaluation, high gamma glutamyl transpeptidase (GGT) levels and absent left kidney were found. A diagnosis of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome was made which is a rare autosomal recessive disorder with primarily clinical diagnosis. Read More

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http://dx.doi.org/10.1136/bcr-2017-223715DOI Listing
August 2018
3 Reads

Generation, Characteristics and Clinical Trials of Ex Vivo Generated Tolerogenic Dendritic Cells.

Yonsei Med J 2018 Sep;59(7):807-815

College of Pharmacy, Chungbuk National University, Cheongju, Korea.

Dendritic cells (DCs) play a key role not only in the initiation of primary immune responses, but also in the development and maintenance of immune tolerance. Numerous protocols have been developed to generate tolerogenic DCs (tolDCs) ex vivo, and the therapeutic efficacy of ex vivo-generated tolDCs has been demonstrated in autoimmune disease animal models. Based on successes in small animal models, several clinical trials have been completed or are on-going in patients with autoimmune diseases such as rheumatoid arthritis, type 1 diabetes, multiple sclerosis, and Crohn's disease. Read More

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http://dx.doi.org/10.3349/ymj.2018.59.7.807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082979PMC
September 2018
5 Reads

A novel mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Hum Genome Var 2018 20;5:19. Epub 2018 Jul 20.

2Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular diagnosis in a Japanese girl with L-CMD. Read More

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http://dx.doi.org/10.1038/s41439-018-0018-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054619PMC

A Novel Splice-Site Mutation in Is Associated with Congenital Primary Lymphoedema of Gordon.

Int J Mol Sci 2018 Aug 1;19(8). Epub 2018 Aug 1.

Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.

Lymphedema is characterized by chronic swelling of any body part caused by malfunctioning or obstruction in the lymphatic system. Primary lymphedema is often considered genetic in origin. , which is a gene encoding the ligand for the vascular endothelial growth factor receptor 3 (VEGFR3/FLT4) and important for lymph vessel development during lymphangiogenesis, has been associated with a specific subtype of primary lymphedema. Read More

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http://dx.doi.org/10.3390/ijms19082259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121331PMC
August 2018
2 Reads

Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.

Acta Myol 2018 Jun 1;37(2):121-127. Epub 2018 Jun 1.

Department of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.

Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy resequencing methodology in the diagnostic regime for muscular dystrophy cases. Here we report a 54-year-old female with a rare histological myopathy presentation of co-occurring cores and rods. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060425PMC

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Hum Mutat 2018 Oct 10;39(10):1314-1337. Epub 2018 Aug 10.

Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.

Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. Read More

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http://dx.doi.org/10.1002/humu.23599DOI Listing
October 2018
9 Reads

Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.

Mol Genet Genomic Med 2018 09 25;6(5):722-727. Epub 2018 Jul 25.

Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California.

Background: When a family encounters the loss of a child early in life, extensive genetic testing of the affected neonate is sometimes not performed or not possible. However, the increasing availability of genomic sequencing may allow for direct application to families in cases where there is a condition inherited from parental gene(s). When neonatal testing is not possible, it is feasible to perform family testing as long as there is optimal interpretation of the genomic information. Read More

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http://dx.doi.org/10.1002/mgg3.405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160706PMC
September 2018
1 Read

Impacts for Children Living with Genetic Muscle Disorders and their Parents - Findings from a Population-Based Study.

J Neuromuscul Dis 2018;5(3):341-352

National Institute for Stroke and Applied Neurosciences, School of Public Health and Psychosocial Studies, Faculty of Health and Environmental Studies, Auckland University of Technology, Auckland, New Zealand.

Background: Genetic muscle disorders, including muscular dystrophies, congenital myopathies, and ion channel muscle diseases can be associated with significant disability.

Objective: This study aimed to explore child and parent perspectives of the impact of living with a genetic muscle disorder.

Methods: Eighty-three children (<16 years) with a clinical or molecular diagnosis were identified as part of a national prevalence study. Read More

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http://dx.doi.org/10.3233/JND-170287DOI Listing
November 2018

Classification of Ventricular Septal Defects for the Eleventh Iteration of the International Classification of Diseases-Striving for Consensus: A Report From the International Society for Nomenclature of Paediatric and Congenital Heart Disease.

Ann Thorac Surg 2018 Nov 19;106(5):1578-1589. Epub 2018 Jul 19.

Pediatric Cardiology Department, Royal Brompton & Harefield National Health Service Trust, London, United Kingdom.

The definition and classification of ventricular septal defects have been fraught with controversy. The International Society for Nomenclature of Paediatric and Congenital Heart Disease is a group of international specialists in pediatric cardiology, cardiac surgery, cardiac morphology, and cardiac pathology that has met annually for the past 9 years in an effort to unify by consensus the divergent approaches to describe ventricular septal defects. These efforts have culminated in acceptance of the classification system by the World Health Organization into the 11th Iteration of the International Classification of Diseases. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2018.06.020DOI Listing
November 2018
18 Reads

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Muscle Nerve 2018 Jul 19. Epub 2018 Jul 19.

Unité de Morphologie Neuromusculaire, Institut de Myologie, Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, 75013, Paris, France.

Introduction: Mutations in the EXOSC3 gene are responsible for type 1 pontocerebellar hypoplasia, an autosomal recessive congenital disorder characterized by cerebellar atrophy, developmental delay, and anterior horn motor neuron degeneration. Muscle biopsies of these patients often show characteristics resembling classic spinal muscle atrophy, but to date, no distinct features have been identified.

Methods: Clinical data and muscle biopsy findings of 3 unrelated patients with EXOSC3 mutations are described. Read More

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http://dx.doi.org/10.1002/mus.26305DOI Listing
July 2018
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Screening genetic diseases prevalence in Braunvieh cattle.

Trop Anim Health Prod 2018 Jul 17. Epub 2018 Jul 17.

Departamento de Zootecnia, Posgrado en Producción Animal, Universidad Autónoma Chapingo, Km. 38.5 Carretera México-Texcoco, 56230, Chapingo, Estado de México, Mexico.

Heritable abnormalities can cause a reduction in productive performance, structural defects, or death of the animal. There are reports of hereditary abnormalities in Braunvieh cattle from several countries, but no evidence was found on their existence in Mexico. In this study, 28 genes associated with hereditary diseases were screened with the GGP-LD 30K array (GeneSeek) in 300 Mexican registered Braunvieh animals. Read More

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http://link.springer.com/10.1007/s11250-018-1655-y
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http://dx.doi.org/10.1007/s11250-018-1655-yDOI Listing
July 2018
12 Reads

Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy.

J Neuromuscul Dis 2018;5(3):331-340

Division of Pediatric Neurology, Children's Hospital London Health Science Centre London, ON, Canada.

Background: Congenital myotonic dystrophy (CDM) is the neonatal onset and most severe presentation of Myotonic Dystrophy type 1. Since it first description, perinatal complications have been detailed including prolonged hospital stay, respiratory and feeding therapy during the neonatal period, although long-term complications are less documented.

Objective: Present a prospective cohort of CDM and compare it to the literature of other CDM case series, to adequately describe and contrast the prenatal, neonatal and infancy features of CDM. Read More

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http://dx.doi.org/10.3233/JND-170277DOI Listing
November 2018
1 Read

[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance].

Rev Chil Pediatr 2018 Jun;89(3):399-408

Programa Enfermedades Neuromusculares y Trastornos Motores, Departamento de Neurología Pediátrica, Clínica Las Condes, Santiago, Chile.

Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Read More

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http://dx.doi.org/10.4067/S0370-41062018005000305DOI Listing
June 2018
16 Reads

A Rare Case of Complete Heart Block in a Young Patient.

Case Rep Cardiol 2018 6;2018:1493121. Epub 2018 Jun 6.

Internal Medicine Department, Texas Tech University Health Sciences Center, Permian Basin, Odessa, TX, USA.

Introduction: Complete heart block (CHB) is considered as one of the dangerous rhythms since it can progress to lethal arrhythmias such as ventricular tachycardia. It can be congenital or acquired. Patients may present with frequent palpitations, presyncope, dyspnea, or chest pain but also may remain asymptomatic. Read More

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http://dx.doi.org/10.1155/2018/1493121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011150PMC
June 2018
15 Reads