Search Our Scientific Publications & Authors

HeartRhythm Case Rep 2020 Jun 25;6(6):318-321. Epub 2020 Feb 25.

AdventHealth Orlando Hospital, Orlando, Florida.

J Med Genet 2020 Jun 22. Epub 2020 Jun 22.

Department of Pediatrics, Peking University First Hospital, Beijing, China

Background: -related muscular dystrophy is caused by mutations in gene. We aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with mutations in an attempt to establish genotype-phenotype correlation.

Methods: The clinical presentations of patients with -related muscular dystrophy were recorded using retrospective and prospective cohort study. Read More

J Pers Med 2020 Jun 15;10(2). Epub 2020 Jun 15.

INSERM, Center of Research in Myology, Institute of Myology, Sorbonne University, 75013 Paris, France.

Recent progress in Omics technologies has started to empower personalized healthcare development at a thorough biomolecular level. Omics have subsidized medical breakthroughs that have started to enter clinical proceedings. The use of this scientific know-how has surfaced as a way to provide a more far-reaching view of the biological mechanisms behind diseases. Read More

Cells 2020 Jun 15;9(6). Epub 2020 Jun 15.

Department of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, NJ 08103, USA.

Mutations in the gene encoding emerin () cause Emery-Dreifuss muscular dystrophy (EDMD1), an inherited disorder characterized by progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons. The skeletal muscle defects seen in EDMD are caused by failure of muscle stem cells to differentiate and regenerate the damaged muscle. However, the underlying mechanisms remain poorly understood. Read More

Neuromuscul Disord 2020 Jun 11;30(6):443-456. Epub 2020 May 11.

Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK; The School of Pharmacy and Bioengineering, Keele University, ST5 5BG, UK. Electronic address:

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterised by the early development of muscle contractures, progressive muscle weakness, and heart abnormalities. The latter may result in serious complications, or in severe cases, sudden death. Currently, there are very few effective treatment options available for EDMD and so there is a high clinical need for new therapies. Read More

Cells 2020 Jun 6;9(6). Epub 2020 Jun 6.

CNR Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza", Unit of Bologna, 40136 Bologna, Italy.

Reactive Oxygen Species (ROS) are reactive molecules required for the maintenance of physiological functions. Oxidative stress arises when ROS production exceeds the cellular ability to eliminate such molecules. In this study, we showed that oxidative stress induces post-translational modification of the inner nuclear membrane protein emerin. Read More

Curr Neurol Neurosci Rep 2020 May 14;20(6):14. Epub 2020 May 14.

Department of Neurology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02116, USA.

Purpose Of Review: Muscular dystrophies are a heterogeneous group of inherited muscular disorders characterized by progressive muscle weakness and in many cases cardiac and respiratory muscle involvement. Historically, these disorders are considered incurable with grave prognoses. The genes responsible for most muscular dystrophies are known, and early diagnosis is achievable with proper clinical recognition and advanced genetic testing. Read More

Muscle Nerve 2020 Jul 6;62(1):128-136. Epub 2020 May 6.

Department of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, New Jersey, United States.

Introduction: Emery-Dreifuss muscular dystrophy (EDMD) is a disease characterized by skeletal muscle wasting, major tendon contractures, and cardiac conduction defects. Mutations in the gene encoding emerin cause EDMD1. Our previous studies suggested that emerin activation of histone deacetylase 3 (HDAC3) to reduce histone 4-lysine 5 (H4K5) acetylation (ac) is important for myogenic differentiation. Read More

Turk J Pediatr 2020 ;62(1):130-135

Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.

Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. Read More

Cells 2020 Mar 31;9(4). Epub 2020 Mar 31.

Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, INSERM UMRS974, F-75651 Paris CEDEX 13, France.

encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form the nuclear lamina. A small fraction of Lamin A/C, less polymerized, is also found in the nucleoplasm. Lamin A/C functions include roles in nuclear resistance to mechanical stress and gene regulation. Read More

Clin Chim Acta 2020 Jul 14;506:50-54. Epub 2020 Mar 14.

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address:

Introduction: Emery-Dreifuss muscular dystrophy (EDMD) also known as humeroperoneal muscular dystrophy, is a skeletal myopathy characterized by the clinical triad of progressive muscular weakness, joint contractures, and cardiac disease.

Methodology: Herein, we reported a family including two patients (the proband and his son) affected with progressive muscular dystrophy manifested by joint contractures without cardiac involvement ("EDMD-like" phenotype). Interestingly, electodiagnostic study results of the proband showed a neuropathic pattern different from the myopathic pattern in most muscular dystrophy patients. Read More

Genes Dev 2020 Apr 5;34(7-8):560-579. Epub 2020 Mar 5.

Friedrich Miescher Institute for Biomedical Research, CH-4058 Basel, Switzerland.

Mutations in the nuclear structural protein lamin A produce rare, tissue-specific diseases called laminopathies. The introduction of a human Emery-Dreifuss muscular dystrophy (EDMD)-inducing mutation into the lamin (LMN-Y59C), recapitulates many muscular dystrophy phenotypes, and correlates with hyper-sequestration of a heterochromatic array at the nuclear periphery in muscle cells. Using muscle-specific emerin Dam-ID in worms, we monitored the effects of the mutation on endogenous chromatin. Read More

Cardiol J 2020 ;27(1):93-94

Department of Electrocardiology and Heart Failure, School of Health Sciences, Medical University of Silesia in Katowice, Ziołowa 47, 40-635 Katowice, Poland.

Intern Med 2020 May 19;59(10):1277-1281. Epub 2020 Feb 19.

Department of Cardiovascular Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Japan.

A 23-year-old man had progressive muscle weakness and Emery-Dreifuss muscular dystrophy (EDMD) due to a LMNA (lamin A/C) mutation. Congestive heart failure diagnosed at 19 years of age. Maximal drug treatment/cardiac resynchronization failed to improve the cardiac function. Read More

Stem Cell Res 2020 03 31;43:101714. Epub 2020 Jan 31.

Saint Petersburg State University, Saint-Petersburg, Russia; Almazov National Medical Research Centre, Saint-Petersburg, Russia.

Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p. p. Read More

Med Hypotheses 2020 May 24;138:109592. Epub 2020 Jan 24.

Universidad Católica de Murcia (UCAM), Spain.

Considering that infrared thermography is presented as a diagnostic technique for non-invasive, non-ionizing, fast and easy to use imaging and Emery-Dreifuss muscular dystrophy is a clinical condition that seems to be related to changes in the emission of infrared radiation at the skin level due to its neurodegenerative character, we have conducted an investigation by infrared thermography and the use of functional strength tests in the lower limbs in a family of 4 affected members of Emery-Dreifuss muscular dystrophy to try to establish a relationship between the evolution of the disease and the emission of infrared radiation in this pathology at the lower limb level and provide a more general view of this disease for a better evaluation and monitoring of the disease. Read More

Neuromuscul Disord 2020 02 28;30(2):165-172. Epub 2019 Nov 28.

Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041, China. Electronic address:

FHL1-related myopathies, including reducing body myopathy (RBM), X-linked scapulo-axio-peroneal myopathy, rigid spine syndrome, X-linked myopathy with postural muscle atrophy (XMPMA), X-linked Emery-Dreifuss muscular dystrophy and hypertrophic cardiomyopathy, are clinically and pathologically heterogeneous disorders caused by FHL1 gene mutations. According to previous reports, the first three types are myopathies with reducing bodies observed in biopsies, and the last three are myopathies without reducing bodies. We report four FHL1-related myopathy patients, including an XMPMA patient and a RBM family with three patients. Read More

J Clin Invest 2020 May;130(5):2408-2421

Santa Lucia Foundation, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy.

Lamin A is a component of the inner nuclear membrane that, together with epigenetic factors, organizes the genome in higher order structures required for transcriptional control. Mutations in the lamin A/C gene cause several diseases belonging to the class of laminopathies, including muscular dystrophies. Nevertheless, molecular mechanisms involved in the pathogenesis of lamin A-dependent dystrophies are still largely unknown. Read More

Genes (Basel) 2020 01 25;11(2). Epub 2020 Jan 25.

Grupo de Investigación en Psiquiatría (GIPSI), Departamento de Psiquiatría, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.

Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases (TGCC) in exon 3 of the calpain 3 gene () (NM_000070.2; NP_000061. Read More

EBioMedicine 2020 Feb 22;52:102620. Epub 2020 Jan 22.

Department of Pediatrics, Peking University First Hospital, 1, Xi anmen St., West District, Beijing, China. Electronic address:

JBJS Case Connect 2020 Jan-Mar;10(1):e0003

Department of Orthopaedic Surgery and Rehabilitation Medicine, State University of New York (SUNY), Downstate Medical Center, Brooklyn, New York.

Case: We report a rare cervical hyperlordotic deformity in a 19-year-old woman with Emery-Dreifuss muscular dystrophy and concomitant scoliosis. After standard posterolateral instrumentation and fusion of C2-T1 and extensive soft-tissue release, her neck pain improved and unassisted maintenance of cervical alignment and horizontal gaze were preserved through an 8-year follow-up. More importantly, she exhibited reciprocal correction of compensatory global sagittal malalignment, including lumbar lordosis. Read More

EBioMedicine 2020 Jan 17;51:102587. Epub 2019 Dec 17.

Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK. Electronic address:

Background: As genome-wide approaches prove difficult with genetically heterogeneous orphan diseases, we developed a new approach to identify candidate genes. We applied this to Emery-Dreifuss muscular dystrophy (EDMD), characterised by early onset contractures, slowly progressive muscular wasting, and life-threatening heart conduction disturbances with wide intra- and inter-familial clinical variability. Roughly half of EDMD patients are linked to six genes encoding nuclear envelope proteins, but the disease mechanism remains unclear because the affected proteins function in both cell mechanics and genome regulation. Read More

J Med Genet 2020 Jun 19;57(6):422-426. Epub 2019 Dec 19.

Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas, USA

Background: Despite major advances in understanding the molecular basis of various genetic lipodystrophy syndromes, some rare patients still remain unexplained.

Cases: We report a novel autosomal recessive lipodystrophy affecting two sisters aged 17 and 19 years and characterised by early onset intellectual disability, and subsequent development of near-generalised loss of subcutaneous fat with diabetes mellitus, extreme hypertriglyceridemia, hepatic steatosis, short stature, clinodactyly, joint contractures, leiomyoma of uterus and cataracts in childhood. The lipodystrophy was more pronounced in the upper and lower extremities, and there was no associated muscular hypertrophy. Read More

Nat Mater 2020 Apr 16;19(4):464-473. Epub 2019 Dec 16.

Meinig School of Biomedical Engineering & Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA.

Mutations in the LMNA gene, which encodes the nuclear envelope (NE) proteins lamins A/C, cause Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy and other diseases collectively known as laminopathies. The mechanisms responsible for these diseases remain incompletely understood. Using three mouse models of muscle laminopathies and muscle biopsies from individuals with LMNA-related muscular dystrophy, we found that Lmna mutations reduced nuclear stability and caused transient rupture of the NE in skeletal muscle cells, resulting in DNA damage, DNA damage response activation and reduced cell viability. Read More

Muscle Nerve 2020 04 28;61(4):436-448. Epub 2019 Dec 28.

Department of Neurology, University of Florida College of Medicine, Gainesville, Florida.

Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life-threatening cardiac complications. EDMD classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy, although the presence and severity of these manifestations vary by subtype and individual. Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN, encoding emerin, lamin A/C, nesprin-1, nesprin-2, FHL1, LUMA, SUN1, SUN2, and titin, respectively. Read More

Pharmgenomics Pers Med 2019 31;12:319-327. Epub 2019 Oct 31.

Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.

Background: Emery-Dreifuss muscular dystrophy, caused by mutations in genes such as emerin () or lamin A/C (), is a disorder affecting the joints, muscles, and heart, with a wide spectrum of patient phenotypes including muscle wasting and cardiac conduction defects.

Methods And Results: Here we report a multi-generation family from the Hunan Province of China. Affected family members displayed an uncommon clinical presentation of serious cardiac conduction abnormalities at an early age and a high incidence of sudden cardiac death along with mild skeletal muscular atrophy and joint contracture. Read More

Micromachines (Basel) 2019 Nov 24;10(12). Epub 2019 Nov 24.

Department of Chemistry, University of Southern California, Los Angeles, CA 90089, USA.

Micropatterning techniques have been widely used in biology, particularly in studies involving cell adhesion and proliferation on different substrates. Cell micropatterning approaches are also increasingly employed as in vitro tools to investigate intracellular mechanotransduction processes. In this report, we examined how modulating cellular shapes on two-dimensional rectangular fibronectin micropatterns of different widths influences nuclear mechanotransduction mediated by emerin, a nuclear envelope protein implicated in Emery-Dreifuss muscular dystrophy (EDMD). Read More

Genes (Basel) 2019 11 11;10(11). Epub 2019 Nov 11.

Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania, 80138 Naples, Italy.

X-linked Emery-Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. Read More

Hum Genome Var 2019 3;6:42. Epub 2019 Sep 3.

1School of Medicine, University of Electronic Science and Technology of China, 610072 Chengdu, Sichuan China.

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chinese patient with EDMD and the previously reported mutation [NM_000117.2: c. Read More

Clin Neurol Neurosurg 2019 Nov 23;186:105536. Epub 2019 Sep 23.

Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy. Electronic address:

Emery Dreifuss muscular dystrophy (EDMD) is an inherited myopathy characterized by early contractures, slow progressive muscle weakness and cardiac involvement. To date at least seven genes have been associated to EDMD with different inheritance patterns, being emerin gene responsible for the X-linked form of the disease. We report a 40-year-old man who was referred for severe gait difficulty. Read More

Nature 2019 10 25;574(7777):259-263. Epub 2019 Sep 25.

INSERM U944, CNRS UMR 7212, Genomes & Cell Biology of Disease Unit, Institut de Recherche Saint-Louis, Université de Paris, Hôpital Saint-Louis, Paris, France.

Chikungunya virus (CHIKV) is a re-emerging alphavirus that is transmitted to humans by mosquito bites and causes musculoskeletal and joint pain. Despite intensive investigations, the human cellular factors that are critical for CHIKV infection remain unknown, hampering the understanding of viral pathogenesis and the development of anti-CHIKV therapies. Here we identified the four-and-a-half LIM domain protein 1 (FHL1) as a host factor that is required for CHIKV permissiveness and pathogenesis in humans and mice. Read More

J Cell Sci 2019 10 18;132(20). Epub 2019 Oct 18.

Department of Biology, Boston College, Chestnut Hill, MA 02467, USA

Mispositioned nuclei are a hallmark of skeletal muscle disease. Many of the genes that are linked to Emery-Dreifuss muscular dystrophy (EDMD) encode proteins that are critical for nuclear movement in various cells, suggesting that disruptions in nuclear movement and position may contribute to disease progression. However, how these genes are coordinated to move nuclei is not known. Read More

Neuromuscul Disord 2019 09 19;29(9):678-683. Epub 2019 Jun 19.

APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France; Service de Neurologie, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Pôle neuro-locomoteur, Hôpital Raymond Poincaré, Paris-Saclay, 104 boulevard Raymond Poincaré, 92380 Garches, France. Electronic address:

Emery-Dreifuss muscular dystrophy is an early-onset, slowly progressive myopathy characterized by the development of multiple contractures, muscle weakness and cardiac dysfunction. We present here the case of a 65-year-old male patient with a 20 year history of slowly progressive camptocormia, bradycardia and shortness of breath. Examination showed severe spine extensor and neck flexor muscle weakness with slight upper limb proximal weakness. Read More

Curr Opin Neurol 2019 10;32(5):728-734

Department of Medicine.

Purpose Of Review: Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD encoding emerin and LMNA encoding A-type lamins, proteins of the nuclear envelope. In the past decade, there has been an extraordinary burst of research on the nuclear envelope. Discoveries resulting from this basic research have implications for better understanding the pathogenesis and developing treatments for EDMD. Read More

PLoS One 2019 20;14(8):e0221512. Epub 2019 Aug 20.

Department of Pathophysiology, Tokyo Medical University, Tokyo, Japan.

Laminopathies are tissue-selective diseases that affect differently in organ systems. Mutations in nuclear envelopes, emerin (Emd) and lamin A/C (Lmna) genes, cause clinically indistinguishable myopathy called Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy. Several murine models for EDMD have been generated; however, emerin-null (Emd) mice do not show obvious skeletal and cardiac muscle phenotypes, and Lmna H222P/H222P mutant (H222P) mice show only a mild phenotype in skeletal muscle when they already have severe cardiomyopathy. Read More

Oxid Med Cell Longev 2019 24;2019:7318796. Epub 2019 Jul 24.

CNR National Research Council of Italy, Institute of Molecular Genetics, Unit of Bologna, 40126 Bologna, Italy.

Ankrd2 (ankyrin repeats containing domain 2) or Arpp (ankyrin repeat, PEST sequence, and proline-rich region) is a member of the muscle ankyrin repeat protein family. Ankrd2 is mostly expressed in skeletal muscle, where it plays an intriguing role in the transcriptional response to stress induced by mechanical stimulation as well as by cellular reactive oxygen species. Our studies in myoblasts from Emery-Dreifuss muscular dystrophy 2, a -linked disease affecting skeletal and cardiac muscles, demonstrated that Ankrd2 is a lamin A-binding protein and that mutated lamins found in Emery-Dreifuss muscular dystrophy change the dynamics of Ankrd2 nuclear import, thus affecting oxidative stress response. Read More

J Mol Neurosci 2019 Dec 13;69(4):623-627. Epub 2019 Aug 13.

Human Genome and Stem Cells Research Center, Genetics and Evolutionary Biology Department, IBUSP, University of São Paulo, Rua do Matão, Travessa 13, no. 106, São Paulo, SP, 05508-090, Brazil.

The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-Dreifuss muscular dystrophy and late-onset LMNA-related muscular dystrophy. In these forms, muscle weakness, contractures, and cardiac impairment are common. In an autosomal dominant pedigree including 5 affected patients, NGS molecular analysis performed in 6 relatives identifies the heterozygous c. Read More

Biochem Biophys Rep 2019 Sep 12;19:100664. Epub 2019 Jul 12.

Sorbonne Université, INSERM UMRS974 Centre de Recherche en Myologie, Institut de Myologie, G.H. Pitié Salpêtrière, F-75651, Paris Cedex 13, France.

A-type lamins gene () mutations cause an autosomal dominant inherited form of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is characterized by slowly progressive muscle weakness and wasting and dilated cardiomyopathy, often leading to heart failure-related disability. EDMD is highly penetrant with poor prognosis and there is currently no specific therapy available. Read More

Acta Myol 2019 Jun 1;38(2):33-36. Epub 2019 Jun 1.

Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.

Mutations in the gene are associated with a wide spectrum of disease phenotypes, ranging from neuromuscular, cardiac and metabolic disorders to premature aging syndromes. Skeletal muscle involvement may present with different phenotypes: limb-girdle muscular dystrophy type 1B or -related dystrophy; autosomal dominant Emery-Dreifuss muscular dystrophy; and a congenital form of muscular dystrophy, frequently associated with early onset of arrhythmias. Heart involvement may occur as part of the muscle involvement or independently, regardless of the presence of the myopathy. Read More

Acta Myol 2019 03 1;38(1):25-28. Epub 2019 Mar 1.

1 Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Greece.

Early joint contractures in childhood or adolescence irrespective of muscle weakness are usually found in Emery-Dreifuss muscular dystrophy and collagen-VI related diseases and only rarely in the early stages of other progressive muscular dystrophies. We report a patient presenting severe elbow contractures and a rigid-spine since his early childhood without any evident muscle weakness, who was diagnosed with facioscapulohumeral muscular dystrophy later in life. This case is interesting since there has been no report, to date, of patients with a phenotype resembling facioscapulohumeral muscular dystrophy also in association with early and prominent elbow contractures and spinal rigidity, since childhood, resembling Emery-Dreifuss muscular dystrophy. Read More

Hum Mol Genet 2019 07;28(13):2237-2244

Sorbonne Université, INSERM, UMRS974, Center of Research in Myology, Institut de Myologie, Paris, France.

Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease manifests as scapulo-humero-peroneal muscle wasting and weakness, early joint contractures and dilated cardiomyopathy with conduction blocks; however, variable skeletal muscle involvement can be present. Previously, we and other demonstrated altered activity of signaling pathways in hearts and striated muscles of LmnaH222P/H222P mice, a model of autosomal EDMD. Read More

Cells 2019 06 10;8(6). Epub 2019 Jun 10.

Laboratory of Structural Biology and Radiobiology, Institute for Integrative Biology of the Cell (CEA, CNRS, University Paris South), University Paris-Saclay, 91190 Gif-sur-Yvette, France.

Emerin is a nuclear envelope protein that contributes to genome organization and cell mechanics. Through its N-terminal LAP2-emerin-MAN1 (LEM)-domain, emerin interacts with the DNA-binding protein barrier-to-autointegration (BAF). Emerin also binds to members of the linker of the nucleoskeleton and cytoskeleton (LINC) complex. Read More

Clin Case Rep 2019 May 21;7(5):1078-1082. Epub 2019 Apr 21.

Clinical Genetic Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy.

Hypertrophic cardiomyopathy could be part of a more complex syndrome like Emery-Dreifuss muscular dystrophy type 4. Genetic analysis allowed to identify a de novo heterozygous missense mutation in SYNE1 gene (chr6:152665253:G > C), supporting physician to reach a correct diagnosis in patient affected by cardiomyopathy associated with a difficult clinical scenario. Read More

Med Hypotheses 2019 Jun 13;127:91-96. Epub 2019 Apr 13.

Universidad Católica de Murcia (UCAM), Spain.

Hypothesis: The hypothesis of this work is that infrared thermography could become a valid tool for the diagnosis and follow-up of the Emery-Dreifuss disease due to putative temperature changes produced by a constant degenerative evolution of this muscular dystrophy.

Testing The Hypothesis: To justify this hypothesis we proposed a pilot study with 2 brothers affected of Emery-Dreifuss who present a very different age, with the principal objective to evidence a possible evolution of this pathology. Acquisition and comparison of images of computerized axial tomography (CT) and thermography (IRT) of the distal limbs in 2 affected brothers. Read More

Front Cell Dev Biol 2019 5;7:48. Epub 2019 Apr 5.

Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.

Emerin () and barrier to autointegration factor 1 () each bind A-type lamins () as fundamental components of nuclear lamina structure. Mutations in , and are genetically linked to many tissue-specific disorders including Emery-Dreifuss muscular dystrophy and cardiomyopathy (, ), lipodystrophy, insulin resistance and type 2 diabetes () and progeria (, ). To explore human genetic variation in these genes, we analyzed and alleles in the Exome Aggregation Consortium (ExAC) cohort of 60,706 unrelated individuals. Read More

Clin Chim Acta 2019 Aug 5;495:123-128. Epub 2019 Apr 5.

Department of Cardiovascular Medicine, Fukushima Medical University, Fukushima, Japan.

Titin, encoded by the gene TTN, is the largest human protein, and plays central roles in sarcomeric structures and functions in skeletal and cardiac muscles. Mutations of TTN are causally related to specific types of muscular dystrophies and cardiomyopathies. A developed methodology of next generation sequencing has recently led to the identification of novel TTN mutations in such diseases. Read More

Clin Neurol Neurosurg 2019 05 19;180:48-51. Epub 2019 Mar 19.

Neurology, Pusan National University Yangsan Hospital, Yangsan, South Korea. Electronic address:

FHL1-related myopathies are clinically heterogeneous, involving skeletal and cardiac muscles. Overlapping clinical features include joint contractures, rigid spine, scapuloperoneal weakness and cardiac diseases. Histopathologically, reducing bodies are the most characteristic finding, but not present in all FHL1-related cases. Read More

Cells 2019 03 13;8(3). Epub 2019 Mar 13.

Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland.

Emerin is an essential LEM (LAP2, Emerin, MAN1) domain protein in metazoans and an integral membrane protein associated with inner and outer nuclear membranes. Mutations in the human gene coding for emerin result in the rare genetic disorder: Emery⁻Dreifuss muscular dystrophy type 1 (EDMD1). This disease belongs to a broader group called laminopathies-a heterogeneous group of rare genetic disorders affecting tissues of mesodermal origin. Read More

Biochem Biophys Res Commun 2019 04 7;512(1):22-28. Epub 2019 Mar 7.

Molecular Profiling Research Center for Drug Discovery and OPERANDO Open Innovation Laboratory, National Institute of Advanced Industrial Science and Technology (AIST), Tokyo, 135-0064, Japan; Graduate School of Medical Life Science, Yokohama City University, Kanagawa, 230-0045, Japan. Electronic address:

The C-terminal Ig-domain of lamin A plays critical roles in cell function via interaction with proteins, DNA, and chromatin. Mutations in this domain are known to cause various diseases including Emery-Dreifuss muscular dystrophy (EDMD) and familial partial lipodystrophy (FPLD). Here we examined the biophysical and biochemical properties of mutant Ig-domains identified in patients with EDMD and FPLD. Read More