3,193 results match your criteria Congenital Muscular Dystrophy


Multiple distinct O-Mannosylation pathways in eukaryotes.

Curr Opin Struct Biol 2019 Apr 15;56:171-178. Epub 2019 Apr 15.

Copenhagen Center for Glycomics, Departments of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark. Electronic address:

Protein O-mannosylation (O-Man), originally discovered in yeast five decades ago, is an important post-translational modification (PTM) conserved from bacteria to humans, but not found in plants or nematodes. Until recently, the homologous family of ER-located protein O-mannosyl transferases (PMT1-7 in yeast; POMT1/POMT2 in humans), were the only known enzymes involved in directing O-Man biosynthesis in eukaryotes. However, recent studies demonstrate the existence of multiple distinct O-Man glycosylation pathways indicating that the genetic and biosynthetic regulation of O-Man in eukaryotes is more complex than previously envisioned. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0959440X183017
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http://dx.doi.org/10.1016/j.sbi.2019.03.003DOI Listing
April 2019
1 Read

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

Mitochondrion 2019 Apr 12. Epub 2019 Apr 12.

Medical Genetics-Neurogenetics, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy. Electronic address:

Congenital Muscular Dystrophies (CMDs) are a heterogeneous group of autosomal recessive disorders presenting at birth with psychomotor delay, cognitive impairment, muscle weakness and hypotonia. Here we described an alteration of mitochondrial inner membrane potential and mitochondrial network in cells derived from Italian patients carrying three novel mutations in CHKB gene, recently associated with "megaconial CMD". On the bases of our findings, we hypothesize that the mitochondrial membrane potential alteration, presumably as a consequence of the altered biosynthesis of phosphatidylcholine, could be responsible for the peculiar morphological aspect of mitochondria in this disease and might be involved in the disease pathogenesis. Read More

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http://dx.doi.org/10.1016/j.mito.2019.04.002DOI Listing
April 2019
1 Read

iPCSK9 treatment of Familial Hypercholesterolemia in a patient diagnosed as Congenital Muscular Dystrophy with contraindication for statin use.

Clin Investig Arterioscler 2019 Apr 9. Epub 2019 Apr 9.

Unidad de Lípidos, Servicio de Medicina Interna, Hospital San Pedro, Logroño, La Rioja, España.

Statins are contraindicated in patients with myopathies. Until a few years ago, in those patients with Familial Hypercholesterolemia who also presented muscular dystrophies and didńt reach adequate cholesterol plasmatic levels, the next therapeutic ladder was lipoapheresis. When iPCSK9 first appeared, lipoapheresis could be suspended in some of these patients, sustaining nevertheless proper levels of cholesterol. Read More

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http://dx.doi.org/10.1016/j.arteri.2019.01.005DOI Listing
April 2019
1 Read

A Novel Pharyngeal Clearance Maneuver for Initial Tracheostomy Tube Cuff Deflation in High Cervical Tetraplegia.

Am J Phys Med Rehabil 2019 Apr 9. Epub 2019 Apr 9.

Rehabilitation Research Center at Santa Clara Valley Medical Center, San Jose, CA.

Mechanical insufflation-exsufflation (MIE), or "cough-assist" is a commonly used method of clearing tracheal and pulmonary secretions in patients with respiratory insufficiency secondary to spinal cord injury (SCI). This report presents a novel technique termed the Pharyngeal Clearance Maneuver (PCM) which utilizes a modified application of the MIE device to mobilize "secretion burden" at the portion of the trachea above the tracheostomy cuff during cuff deflation. Utilization of this strategy may reduce the risk of aspiration, infection, and respiratory compromise for patients with high cervical SCI in the acute rehabilitation setting. Read More

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http://dx.doi.org/10.1097/PHM.0000000000001192DOI Listing
April 2019
1 Read

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.

BMC Pediatr 2019 Apr 8;19(1):98. Epub 2019 Apr 8.

Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.

Background: Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly.

Case Presentation: We report clinical and genetic characteristics of a 6-year-old boy affected by muscular dystrophy-dystroglycanopathy. Read More

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https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887
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http://dx.doi.org/10.1186/s12887-019-1470-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454623PMC
April 2019
1 Read

Resistance towards nondepolarising muscle relaxants: prolonged onset time: A systematic review.

Eur J Anaesthesiol 2019 Apr 3. Epub 2019 Apr 3.

From the Department of Anaesthesiology, Herlev and Gentofte Hospital, University of Copenhagen, Herlev, Denmark (EL-M, ML-K, JB-S, CM-S, MV-M, MR-G).

Background: Nondepolarising muscle relaxants (NDMRs) provide optimal conditions for tracheal intubation and improve surgical conditions. Several clinical conditions, diseases and pharmacological interactions have been suggested to cause resistance towards NDMRs that may translate into difficult intubation or inadequate operating conditions during surgery.

Objective: The aim of this study was to evaluate the current evidence of patient groups with resistance towards NDMRs. Read More

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http://dx.doi.org/10.1097/EJA.0000000000000991DOI Listing
April 2019
2 Reads
3.011 Impact Factor

Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in Gene.

J Pediatr Neurosci 2018 Oct-Dec;13(4):462-464

Department of Radiology, Medical Park Hospital, Gaziantep, Turkey.

Muscular dystrophy-dystroglycanopathy is a heterogeneous group of inherited muscular dystrophies caused by glycosylation defects associated with different mutations. The main finding of the disease is disruption of the binding of cellular α-dystroglycan to its extracellular matrix ligands. O-mannose β-1,2-N-acetylglucosaminyltransferase 1 is one of the pathogenic genes involved in glycosylation defects of α-dystroglycan. Read More

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http://www.pediatricneurosciences.com/text.asp?2018/13/4/462
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http://dx.doi.org/10.4103/JPN.JPN_36_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413589PMC
April 2019
6 Reads

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Hum Mutat 2019 Apr 1. Epub 2019 Apr 1.

Department of Biomedicine, Basel University Hospital, Basel, Switzerland.

Congenital myopathies are early onset, slowly progressive neuromuscular disorders of variable severity. They are genetically and phenotypically heterogeneous and caused by pathogenic variants in several genes. Multi-minicore Disease, one of the more common congenital myopathies, is frequently caused by recessive variants in either SELENON, encoding the endoplasmic reticulum glycoprotein selenoprotein N or RYR1, encoding a protein involved in calcium homeostasis and excitation-contraction coupling. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23745
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http://dx.doi.org/10.1002/humu.23745DOI Listing
April 2019
5 Reads

Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing.

Genet Test Mol Biomarkers 2019 Mar 22. Epub 2019 Mar 22.

1 Department of Pathology, Princess Margaret Hospital, Hong Kong, China.

Aims: Muscle disorders are clinically and genetically heterogeneous. Investigations, including plasma creatine kinase, electromyography, and nerve conduction velocity studies, might be nonspecific, whereas muscle biopsy might be limited by sampling bias and variable histopathology. Next-generation sequencing is now generally considered an important diagnostic tool for muscle disorders, with decreased costs and improved diagnostic yield. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0185DOI Listing
March 2019
1 Read

Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.

Clin Neuropathol 2019 Mar 22. Epub 2019 Mar 22.

Congenital muscular dystrophy with laminin-α2 deficiency, also known as MDC1A, displays an extensive phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counseling. Here we report one individual from a family presenting with clinical features including seizure attack, slight weakness of proximal leg muscles, and mild cognitive impairment with increased small angular fibers, decreased expression of α-DG and β-DG, normal expression of laminin-α2, and severe white matter changes. Read More

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http://dx.doi.org/10.5414/NP301137DOI Listing
March 2019
6 Reads
1.311 Impact Factor

Concomitant hypo-hyperdontia: A rare entity.

J Dent Sci 2018 Mar 13;13(1):60-67. Epub 2018 Feb 13.

Department of Dentistry, School of Dentistry National Taiwan University, No. 1, Changde St., Taipei City, 10048, Taiwan.

Background/purpose: Concomitant hypo-hyperdontia (CHH) is a rare numeric dental anomaly characterized by congenital missing teeth and supernumerary teeth occurring in the same individual. Due to its rarity and sporadicity, the causes of CHH have been completely unknown. Detailed characterization and presentation of more CHH cases not only strengthen clinical diagnosis and treatment for the patients but facilitate the search for etiological factors of the disorder. Read More

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http://dx.doi.org/10.1016/j.jds.2018.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6388844PMC
March 2018
2 Reads

Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency.

Eur Ann Otorhinolaryngol Head Neck Dis 2019 Mar 14. Epub 2019 Mar 14.

ORL et chirurgie cervicofaciale pédiatrique, hôpital Jeanne-de-Flandre, CHRU Lille, avenue Eugène-Avinée, 59037 Lille cedex, France. Electronic address:

Introduction: Epidermolysis bullosa (EB) is a congenital disease characterized by fragility of epithelial structures. The skin is the organ primarily affected, resulting in the formation of skin blisters. Some forms of EB may also present mucosal lesions. Read More

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http://dx.doi.org/10.1016/j.anorl.2019.02.009DOI Listing

Exploring Patient Experience of Facial Nerve Palsy to Inform the Development of a PROM.

Plast Reconstr Surg Glob Open 2019 Jan 9;7(1):e2072. Epub 2019 Jan 9.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

Background: There is currently a mandate globally to incorporate patient's perceptions of their illness into outcome measures, in order to provide a deeper insight into medical practice. Facial nerve palsy (FNP) is a devastating condition that can significantly impact quality of life. However, no measure currently exists that comprehensively assesses outcome in FNP using patient perception. Read More

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http://dx.doi.org/10.1097/GOX.0000000000002072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382227PMC
January 2019
4 Reads

"The impact of European Neuromuscular Centre (ENMC) workshops on the neuromuscular field; 25 years on …".

Neuromuscul Disord 2019 Apr 7;29(4):330-340. Epub 2019 Feb 7.

Spierziekten Nederland, Baarn, The Netherlands.

Since 1992, the European Neuromuscular Centre facilitated workshops to bring experts in the field of neuromuscular disorders together. After organising more than 235 workshops, it is time to evaluate what impact these 25 years of ENMC workshops have had on the neuromuscular research field and on people affected by a neuromuscular condition. To measure this, workshop topics were retrospectively evaluated and bibliometric analyses on the citation scores of ENMC-derived publications were performed. Read More

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http://dx.doi.org/10.1016/j.nmd.2019.01.008DOI Listing
April 2019
4 Reads

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses.

J Cell Biol 2019 Mar 6. Epub 2019 Mar 6.

Helen L. and Martin S. Kimmel Center for Biology and Medicine at the Skirball Institute of Biomolecular Medicine, New York University Medical School, New York, NY

Complex mechanisms are required to form neuromuscular synapses, direct their subsequent maturation, and maintain the synapse throughout life. Transcriptional and post-translational pathways play important roles in synaptic differentiation and direct the accumulation of the neurotransmitter receptors, acetylcholine receptors (AChRs), to the postsynaptic membrane, ensuring for reliable synaptic transmission. Rapsyn, an intracellular peripheral membrane protein that binds AChRs, is essential for synaptic differentiation, but how Rapsyn acts is poorly understood. Read More

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http://dx.doi.org/10.1083/jcb.201810023DOI Listing
March 2019
9.834 Impact Factor

Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres.

Sci Rep 2019 Feb 26;9(1):2770. Epub 2019 Feb 26.

School of Biological Sciences, University of Reading, Reading, UK.

The dystrophin-glycoprotein complex (DGC) links the muscle cytoskeleton to the extracellular matrix and is responsible for force transduction and protects the muscle fibres from contraction induced damage. Mutations in components of the DGC are responsible for muscular dystrophies and congenital myopathies. Expression of DGC components have been shown to be altered in many myopathies. Read More

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http://dx.doi.org/10.1038/s41598-019-39532-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391483PMC
February 2019
4 Reads
5.078 Impact Factor

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.

BMC Neurol 2019 Feb 26;19(1):32. Epub 2019 Feb 26.

Department of Neurology, Affiliated Qianfoshan Hospital of Shandong University, NO.16766, Jingshi Road, Shandong, Jinan, 250014, CN, China.

Background: Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable to mutations in the COL6A1, COL6A2, and COL6A3 genes. However, no case of collagen VI mutations with hematuria has been reported. We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c. Read More

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http://dx.doi.org/10.1186/s12883-019-1263-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390614PMC
February 2019

A rare complication of untreated congenital hypothyroidism in a Sudanese child.

Sudan J Paediatr 2018 ;18(2):64-66

Associate Professor, Consultant Paediatrician and Neonatologist, Port Sudan Paediatric Teaching Hospital, Red Sea University, Sudan.

The clinical features and management of a 7-year-old boy who presented with Kocher-Debre-Semelaigne syndrome (KDSS) are described. KDSS is a rare complication of the long-standing, untreated congenital hypothyroidism. It can be encountered in clinical practice in countries where neonatal screening program of hypothyroidism is not yet applied. Read More

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http://dx.doi.org/10.24911/SJP.106-1539463165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378584PMC
January 2018

Late-onset megaconial myopathy in mice lacking group I Paks.

Skelet Muscle 2019 Feb 21;9(1). Epub 2019 Feb 21.

Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1020, New York, NY, 10029, USA.

Background: Group I Paks are serine/threonine kinases that function as major effectors of the small GTPases Rac1 and Cdc42, and they regulate cytoskeletal dynamics, cell polarity, and transcription. We previously demonstrated that Pak1 and Pak2 function redundantly to promote skeletal myoblast differentiation during postnatal development and regeneration in mice. However, the roles of Pak1 and Pak2 in adult muscle homeostasis are unknown. Read More

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http://dx.doi.org/10.1186/s13395-019-0191-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383276PMC
February 2019
1 Read

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.

Clin Pediatr Endocrinol 2019 31;28(1):1-7. Epub 2019 Jan 31.

Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

Congenital generalized lipodystrophy type 4 (CGL4) is a rare disease caused by mutations in the gene polymerase I and transcript release factor (), the main symptoms of which are systemic reductions in adipose tissue and muscular dystrophy. The strategy of treating CGL4 is to improve the insulin resistance and hypertriglyceridemia that result from systemic reductions in adipose tissue. Metreleptin, a synthetic analog of human leptin, is effective against generalized lipodystrophies; however, there are no reports of the use of metreleptin in the treatment of CGL4. Read More

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http://dx.doi.org/10.1297/cpe.28.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356095PMC
January 2019
2 Reads

Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

J Neuropathol Exp Neurol 2019 Feb 4. Epub 2019 Feb 4.

Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.

The phenotypes associated with pathogenic variants in the ryanodine receptor 1 gene (RYR1, OMIM# 180901) have greatly expanded over the last few decades as genetic testing for RYR1 variants has become more common. Initially described in association with malignant hyperthermia, pathogenic variants in RYR1 are typically associated with core pathology in muscle biopsies (central core disease or multiminicore disease) and symptomatic myopathies with symptoms ranging from mild weakness to perinatal lethality. We describe a 2-week-old male patient with multiple congenital dysmorphisms, severe perinatal weakness, and subsequent demise, whose histopathology on autopsy was consistent with congenital muscular dystrophy. Read More

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http://dx.doi.org/10.1093/jnen/nlz004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380315PMC
February 2019
1 Read

[Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene].

Zhonghua Er Ke Za Zhi 2019 Feb;57(2):136-141

Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China.

To summarize the clinical manifestations and determine the molecular etiology for two collagen type Ⅵ-related myopathy pedigrees. Two spontaneous collagen type Ⅵ-related myopathy patients were admitted to Department of Neurology, Children's Hospital, Capital Institute of Pediatrics in October 2017. Clinical data of probands and their family members were collected and their genomic DNA was obtained for genetic testing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.02.014DOI Listing
February 2019
2 Reads

Speckle-Tracking Echocardiography in Children With Duchenne Muscular Dystrophy: A Prospective Multicenter Controlled Cross-Sectional Study.

J Am Soc Echocardiogr 2019 Mar 21;32(3):412-422. Epub 2019 Jan 21.

PHYMEDEXP, University of Montpellier, CNRS, INSERM, CHU Montpellier, Montpellier, France.

Background: Prognosis of Duchenne muscular dystrophy (DMD) is related to cardiac dysfunction. Speckle-tracking echocardiographic (STE) imaging is emerging as a noninvasive functional biomarker to consider in the early detection of DMD-related cardiomyopathy. However, STE analysis has not been assessed in a prospectively controlled study, especially in presymptomatic children with DMD, and no study has used STE analysis in all three displacements (longitudinal, radial, and circumferential) and for both ventricles. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08947317183060
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http://dx.doi.org/10.1016/j.echo.2018.10.017DOI Listing
March 2019
13 Reads
4.056 Impact Factor

Cardiac and skeletal muscle effects in the randomized HOPE-Duchenne trial.

Neurology 2019 Feb 23;92(8):e866-e878. Epub 2019 Jan 23.

From The Heart Institute (M.T., J.J., B.G.), Cincinnati Children's Hospital Medical Center, OH; Department of Pediatrics and Molecular Genetics and Microbiology, Powell Gene Therapy Center (B.B.), and Division of Pediatric Cardiology, Congenital Heart Center (J.F.), University of Florida, Gainesville; Department of Cardiology (J.L., B.A.-V., M.R.O.), Johns Hopkins University, Baltimore, MD; Smidt Heart Institute (R.M., E.M., R.G.V.), Cedars-Sinai Medical Center, Los Angeles, CA; Capricor Therapeutics (R.R.S., B.F., J.R., J.M.P., L.M., D.D.A.), Beverly Hills, CA; and Department of Cardiology (K.M.), Laikon Hospital, Athens, Greece.

Objective: To assess the feasibility, safety, and efficacy of intracoronary allogeneic cardiosphere-derived cells (CAP-1002) in patients with Duchenne muscular dystrophy (DMD).

Methods: The Halt Cardiomyopathy Progression (HOPE)-Duchenne trial is a phase I/II, randomized, controlled, open-label trial (NCT02485938). Patients with DMD >12 years old, with substantial myocardial fibrosis, were randomized (1:1) to usual care (control) or global intracoronary infusion of CAP-1002 (75 million cells). Read More

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http://dx.doi.org/10.1212/WNL.0000000000006950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396968PMC
February 2019
2 Reads

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.

Neuroepidemiology 2019 Jan 18;52(3-4):128-135. Epub 2019 Jan 18.

Department of Neurology, Auckland City Hospital, Auckland, New Zealand.

Background: Previous epidemiological studies of genetic muscle disorders have relied on medical records to identify cases and may be at risk of selection biases or have focused on selective population groups.

Objectives: This study aimed to determine age-standardised prevalence of genetic muscle disorders through a nationwide, epidemiological study across the lifespan using the capture-recapture method.

Methods: Adults and children with a confirmed clinical or molecular diagnosis of a genetic muscle disorder, resident in New Zealand on April 1, 2015 were identified using multiple overlapping sources. Read More

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http://dx.doi.org/10.1159/000494115DOI Listing
January 2019
1 Read

Mammalian O-mannosyl glycans: Biochemistry and glycopathology.

Authors:
Tamao Endo

Proc Jpn Acad Ser B Phys Biol Sci 2019 ;95(1):39-51

Tokyo Metropolitan Institute of Gerontology.

Glycosylation is an important posttranslational modification in mammals. The glycans of glycoproteins are classified into two groups, namely, N-glycans and O-glycans, according to their glycan-peptide linkage regions. Recently, O-mannosyl glycan, an O-glycan, has been shown to be important in muscle and brain development. Read More

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http://dx.doi.org/10.2183/pjab.95.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395781PMC
January 2019
1 Read

Characteristic clinical and ultrastructural findings in nesprinopathies.

Eur J Paediatr Neurol 2019 Mar 29;23(2):254-261. Epub 2018 Dec 29.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.

Aims: To define the neurological and neuropathological alterations caused by SYNE1 mutations.

Methods: We describe 5 patients (3 males, 2 females; age 3-24 years) from 3 families. The diagnostic work-up included three muscle biopsies and two nerve biopsies in three of the cases. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.12.011DOI Listing
March 2019
4 Reads

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.

Ann Lab Med 2019 May;39(3):299-310

Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Background: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA).

Methods: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients. To determine whether the CMA results directly influenced treatment recommendations, the referring clinicians were asked to complete a 39-item questionnaire for each patient separately after receiving the CMA results. Read More

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https://synapse.koreamed.org/DOIx.php?id=10.3343/alm.2019.39
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http://dx.doi.org/10.3343/alm.2019.39.3.299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340852PMC
May 2019
12 Reads
1.481 Impact Factor

Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy.

J Clin Neurosci 2019 Apr 3;62:238-239. Epub 2019 Jan 3.

Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.

Multiminicore disease is a myopathy that is pathologically characterized by the presence of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization lacking mitochondria (minicores) that can be observed in both type 1 and type 2 fibers. Most cases of multiminicore disease typically present with early-onset axial weakness, respiratory insufficiency, scoliosis, and rigid spine. There is no correlation between the frequency of minicores and clinical severity. Read More

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http://dx.doi.org/10.1016/j.jocn.2018.12.024DOI Listing
April 2019
2 Reads

RGD inhibition of itgb1 ameliorates laminin-α2-deficient zebrafish fibre pathology.

Hum Mol Genet 2019 May;28(9):1403-1413

Australian Regenerative Medicine Institute, Monash University, Innovation Walk, Clayton Campus, Wellington Road, Clayton, VIC, Australia.

Deficiency of muscle basement membrane (MBM) component laminin-α2 leads to muscular dystrophy congenital type 1A (MDC1A), a currently untreatable myopathy. Laminin--α2 has two main binding partners within the MBM, dystroglycan and integrin. Integrins coordinate both cell adhesion and signalling; however, there is little mechanistic insight into integrin's function at the MBM. 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/ddy426DOI Listing
May 2019
13 Reads

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

Am J Med Genet A 2019 Feb 18;179(2):317-321. 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
February 2019
2 Reads

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-
Publisher Site
http://dx.doi.org/10.1186/s12883-018-1207-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295086PMC
December 2018
17 Reads

Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.

Int Heart J 2019 Jan 5;60(1):12-18. Epub 2018 Dec 5.

Department of Cardiovascular Medicine, Second Xiangya Hospital of Central South University.

Emery-Dreifuss muscular dystrophy (EDMD) is a group of hereditary muscular dystrophy syndrome caused by deficiency of genes encoding nuclear envelope proteins. Patients having EDMD show the triad of muscle dystrophy, joint contracture, and cardiac disease. In almost all patients, cardiac involvement is prevalent and is the most severe aspect of EDMD. Read More

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http://dx.doi.org/10.1536/ihj.17-604DOI Listing
January 2019
5 Reads

Targeted next generation sequencing reveals novel splice site mutations in gene in a patient with congenital muscular dystrophy.

Neurol India 2018 Nov-Dec;66(6):1812-1814

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Telangana, India.

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http://dx.doi.org/10.4103/0028-3886.246266DOI Listing
December 2018
5 Reads

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

J Neurol 2019 Feb 4;266(2):353-360. Epub 2018 Dec 4.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

Objective: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.

Methods: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical characterization, lower limb muscle MRI, muscle biopsy and spirometry. Read More

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http://link.springer.com/10.1007/s00415-018-9137-8
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http://dx.doi.org/10.1007/s00415-018-9137-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373352PMC
February 2019
20 Reads
3.380 Impact Factor

Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies.

Comp Med 2018 Nov 28. Epub 2018 Nov 28.

Here we report a case of severe growth retardation and neurologic abnormalities in a female gray mouse lemur (Microcebusmurinus), a small NHP species for which the genomic sequence recently became available. The female lemur we present heredied on postnatal day 125. This lemur had impaired development of motor skills and showed severe ataxia and tremors. Read More

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http://dx.doi.org/10.30802/AALAS-CM-18-000019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310204PMC
November 2018
7 Reads

Emergency room visits and admission rates of children with neuromuscular disorders: A 10-year experience in a medical center in Taiwan.

Pediatr Neonatol 2018 Oct 2. Epub 2018 Oct 2.

Division of Pediatric Emergency, Department of Emergency, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Ph.D. Program in Translational Medicine, Graduate Institute of Clinical Medicine, 18 Kaohsiung Medical University and Academia Sinica, Taiwan; Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. Electronic address:

Background: No previous studies have explored emergency medical care for children with chronic neuromuscular disorders (NMDs). We aimed to determine the major reasons for the emergency room (ER) readmission of pediatric patients with NMDs and suggest changes to the care plan to decrease readmissions.

Methods: Children with chronic NMDs (aged <18 years) who visited a medical center-based ER between January 2005 and January 2015 were included. Read More

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http://dx.doi.org/10.1016/j.pedneo.2018.09.008DOI Listing
October 2018
5 Reads
0.880 Impact Factor

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.

Mutat Res 2018 Oct - Dec;778:45-50. Epub 2018 Sep 12.

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, PR China. Electronic address:

Protein O-mannosyltransferase 1 (POMT1) is a critical enzyme participating in the first step of protein O-mannosylation. Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). MDDGs are characterized by a broad phenotypic spectrum of congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy, accompanied by variable degrees of intellectual disability, brain defects, and ocular abnormalities. Read More

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http://dx.doi.org/10.1016/j.mrrev.2018.09.002DOI Listing
April 2019
12 Reads

Exploratory Profiling of Urine MicroRNAs in the Mouse Model of LAMA2-CMD: Relation to Disease Progression.

PLoS Curr 2018 Aug 27;10. Epub 2018 Aug 27.

Integrative Biology and Physiology, University of California, Los Angeles, California, United States.

Circulating microRNAs (miRNAs) are being considered as non-invasive biomarkers for disease progression and clinical trials. Congenital muscular dystrophy with deficiency of laminin α2 chain (LAMA2-CMD) is a very severe form of muscular dystrophy, for which no treatment is available. In order to identify LAMA2-CMD biomarkers we have profiled miRNAs in urine from the / mouse model of LAMA2-CMD at three distinct time points (representing asymptomatic, initial and established disease). Read More

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https://dx.plos.org/10.1371/currents.md.d0c203c018bc024f2f4c
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http://dx.doi.org/10.1371/currents.md.d0c203c018bc024f2f4c9791ecb05f88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140833PMC
August 2018
9 Reads

Cervical Hyperextension Deformity After Sagittal Balance Correction in Patient with Congenital Limb-Girdle Myopathy: Surgical Technique and Review of Literature.

World Neurosurg 2019 Mar 9;123:265-271. Epub 2018 Nov 9.

Department of Neurosurgery, Hotel Dieu de France Hospital, Beirut, Lebanon. Electronic address:

Background: There is no gold standard surgical treatment for cervical hyperextension deformity, especially in case of muscular dystrophy. Special considerations and caution should be taken as they carry a high risk of early mortality and spinal cord injury. Only a few case reports are available in the literature. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.10.211DOI Listing
March 2019
5 Reads

Needle electromyography and histopathologic correlation in myopathies.

Muscle Nerve 2019 Mar 29;59(3):315-320. Epub 2018 Dec 29.

Mayo Clinic Neurology Department, 4500 San Pablo Road South, Jacksonville, Florida, 32224, USA.

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

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

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http://dx.doi.org/10.1002/mus.26381DOI Listing
March 2019
1 Read

Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic Mutations.

Front Physiol 2018 15;9:1332. Epub 2018 Oct 15.

Department of Cell and Developmental Biology, University College London, London, United Kingdom.

Laminopathies are a clinically heterogeneous group of disorders caused by mutations in . The main proteins encoded by are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the inner nuclear membrane. Laminopathies show striking tissue specificity, with subtypes affecting striated muscle, peripheral nerve, and adipose tissue, while others cause multisystem disease with accelerated aging. Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01332
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http://dx.doi.org/10.3389/fphys.2018.01332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201196PMC
October 2018
12 Reads

Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study.

Sci Rep 2018 Nov 2;8(1):16302. Epub 2018 Nov 2.

Unit of Muscle Biology, Department of Experimental Medical Science, Lund University, Lund, Sweden.

Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe muscle disorder with complex underlying pathogenesis. We have previously employed profiling techniques to elucidate molecular patterns and demonstrated significant metabolic impairment in skeletal muscle from LAMA2-CMD patients and mouse models. Thus, we hypothesize that skeletal muscle metabolism may be a promising pharmacological target to improve muscle function in LAMA2-CMD. Read More

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http://dx.doi.org/10.1038/s41598-018-34362-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214987PMC
November 2018

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.

Neurotherapeutics 2018 10;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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277298PMC
October 2018
35 Reads

Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts.

Cell Death Dis 2018 Oct 19;9(11):1071. Epub 2018 Oct 19.

Institute of Biophysics (IBF), CNR, Pisa, Italy.

Congenital myotonic dystrophy type 1 (CDM1) is characterized by severe symptoms that affect patients from birth, with 40% mortality in the neonatal period and impaired skeletal muscle development. In this paper, we examined the relationship between autophagy and abnormal myogenic differentiation of CDM1 myoblasts. We investigated these pathological features at both ultrastructural and molecular levels, utilizing two CDM1 foetal myoblasts, CDM13 and CDM15, with 1800 and 3200 repeats, respectively. Read More

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http://www.nature.com/articles/s41419-018-1080-1
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http://dx.doi.org/10.1038/s41419-018-1080-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195593PMC
October 2018
21 Reads