846 results match your criteria Emery-Dreifuss Muscular Dystrophy

Three novel FHL1 Variants cause a mild Phenotype of Emery-Dreifuss Muscular Dystrophy.

Hum Mutat 2022 May 24. Epub 2022 May 24.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.

Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of early-onset joint contractures, progressive muscle weakness and cardiac involvement. Pathogenic variants in FHL1 can cause a rare X-linked recessive form of EDMD, type 6. We report three men with novel variants in FHL1 leading to EDMD6. Read More

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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update.

Indian J Pathol Microbiol 2022 May;65(Supplement):S259-S270

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD. Read More

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Sudden cardiac death prevention in an Emery-Dreifuss muscular dystrophy patient.

Pediatr Int 2022 01;64(1):e15204

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

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January 2022

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.

Heart Rhythm 2022 Apr 26. Epub 2022 Apr 26.

Mayo Clinic College of Medicine, Phoenix, Arizona.

This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders (NMDs). The document presents an overview of arrhythmias in NMDs followed by detailed sections on specific disorders: Duchenne muscular dystrophy, Becker muscular dystrophy, and limb-girdle muscular dystrophy type 2; myotonic dystrophy type 1 and type 2; Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B; facioscapulohumeral muscular dystrophy; and mitochondrial myopathies, including Friedreich ataxia and Kearns-Sayre syndrome, with an emphasis on managing arrhythmic cardiac manifestations. End-of-life management of arrhythmias in patients with NMDs is also covered. Read More

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Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With Mutation in a Chinese Family.

Front Genet 2022 23;13:795188. Epub 2022 Feb 23.

V-Medical Laboratory Co., Ltd, Hangzhou, China.

Autosomal recessive cerebellar ataxia type 1 (ARCA-1), also known as autosomal recessive spinocerebellar ataxia type 8 (SCAR8), is caused by spectrin repeat containing nuclear envelope protein 1 () gene mutation. Nesprin-1, encoded by , is widely expressed in various tissues, especially in the striated muscle and cerebellum. The destruction of Nesprin-1 is related to neuronal and neuromuscular lesions. Read More

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February 2022

Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies.

Biomedicines 2022 Feb 21;10(2). Epub 2022 Feb 21.

Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.

Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation. MDs can also affect cardiac and respiratory muscles, impairing life-expectancy. MDs in clude Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy. Read More

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February 2022

Emerin self-assembly and nucleoskeletal coupling regulate nuclear envelope mechanics against stress.

J Cell Sci 2022 03 30;135(6). Epub 2022 Mar 30.

Department of Biological Sciences, University of Southern California, 1050 Childs Way, Los Angeles, CA 90089, USA.

Emerin is an integral nuclear envelope protein that participates in the maintenance of nuclear shape. When mutated or absent, emerin causes X-linked Emery-Dreifuss muscular dystrophy (EDMD). To understand how emerin takes part in molecular --scaffolding at the nuclear envelope and helps protect the nucleus against mechanical stress, we established its nanoscale organization using single-molecule tracking and super-resolution microscopy. Read More

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Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

Neurol Sci 2022 Jul 17;43(7):4473-4481. Epub 2022 Feb 17.

Graduate Program in Medicine: Medical Sciences, Universidade Federal Do Rio Grande Do Sul (UFRGS), Porto Alegre, Brazil.

Genetic testing is being considered the first-step in the investigation of hereditary myopathies. However, the performance of the different testing approaches is little known. The aims of the present study were to evaluate the diagnostic yield of a next-generation sequencing panel comprising 39 genes as the first-tier test for genetic myopathies diagnosis and to characterize clinical and molecular findings of families from southern Brazil. Read More

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Nuclear lamins: Structure and function in mechanobiology.

APL Bioeng 2022 Mar 1;6(1):011503. Epub 2022 Feb 1.

Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA.

Nuclear lamins are type V intermediate filament proteins that polymerize into complex filamentous meshworks at the nuclear periphery and in less structured forms throughout the nucleoplasm. Lamins interact with a wide range of nuclear proteins and are involved in numerous nuclear and cellular functions. Within the nucleus, they play roles in chromatin organization and gene regulation, nuclear shape, size, and mechanics, and the organization and anchorage of nuclear pore complexes. Read More

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Meclozine ameliorates skeletal muscle pathology and increases muscle forces in mdx mice.

Biochem Biophys Res Commun 2022 02 7;592:87-92. Epub 2022 Jan 7.

Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.

We screened pre-approved drugs for the survival of the Hu5/KD3 human myogenic progenitors. We found that meclozine, an anti-histamine drug that has long been used for motion sickness, promoted the proliferation and survival of Hu5/KD3 cells. Meclozine increased expression of MyoD, but reduced expression of myosin heavy chain and suppressed myotube formation. Read More

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February 2022

Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of and in Emery-Dreifuss Muscular Dystrophy.

Front Genet 2021 17;12:786294. Epub 2021 Dec 17.

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

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early joint contractures, slowly progressive muscular dystrophy, and cardiac involvement, which includes arrhythmia, dilated cardiomyopathy, hypertrophic cardiomyopathy, heart failure, and sudden death. Clinical data of the proband and family members were collected. The next-generation sequencing technology was used to analyze the pathogenic variants and copy number variations. Read More

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December 2021

Nesprin-1 Isoforms Differentially Contribute to Muscle Function.

Cells 2021 11 6;10(11). Epub 2021 Nov 6.

Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, 69008 Lyon, France.

Nesprin-1 is a large scaffold protein connecting nuclei to the actin cytoskeleton via its KASH and Calponin Homology domains, respectively. Nesprin-1 disconnection from nuclei results in altered muscle function and myonuclei mispositioning. Furthermore, Nesprin-1 mutations are associated with muscular pathologies such as Emery Dreifuss muscular dystrophy and arthrogryposis. Read More

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November 2021

Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy preceding skeletal muscle symptoms.

Cardiol Young 2021 Nov 25:1-3. Epub 2021 Nov 25.

Department of Cardiology, Kanagawa Children's Medical Center, Yokohama, Japan.

Emery-Dreifuss muscular dystrophy is a slowly progressive skeletal muscle and joint disorder associated with cardiac complications. Dilated cardiomyopathy was the initial manifestation of Emery-Dreifuss muscular dystrophy in an 8-year-old girl. Despite normal muscle and myocardial biopsies, genetic testing revealed LMNA mutations. Read More

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November 2021

Acute heart failure and bradyarrhythmia in a young male-what hides beneath the surface?: a case report.

Eur Heart J Case Rep 2021 Oct 9;5(10):ytab413. Epub 2021 Oct 9.

Neurology Department, Centro Hospitalar Tondela-Viseu, Av. Rei Dom Duarte, 3504-509 Viseu, Portugal.

Background: Muscular dystrophies (MDs) are characterized by early-onset muscular atrophy and weakness, with frequent cardiac involvement. Myocardial dysfunction and conduction system involvement are often rapidly progressive despite medical and device therapy, and may even precede muscular symptoms, posing a challenge to diagnosis.

Case Summary: We report a case of a young male admitted to a cardiac intensive care unit due to '' acute heart failure (HF) and atrial flutter with a slow ventricular response. Read More

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October 2021

Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss muscular dystrophy in a long-term follow-up.

Kardiol Pol 2021;79(12):1335-1342. Epub 2021 Nov 16.

1st Chair and Department of Cardiology, Medical University of Warsaw, Warszawa, Poland.

Background: Emery-Dreifuss muscular dystrophy (EDMD) is an extremely rare muscular dystrophy due to either emerinopathy (EMD) or laminopathy (LMNA). The main risk for patients is that of cardiovascular complications.

Aims: This study aimed to identify predictors of adverse clinical events in patients with EDMD in a long-term follow-up observation. Read More

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In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies.

Int J Mol Sci 2021 Oct 18;22(20). Epub 2021 Oct 18.

Department of Biochemistry, University of Iowa, Iowa City, IA 52242, USA.

Mutations in the gene cause diseases called laminopathies. encodes lamins A and C, intermediate filaments with multiple roles at the nuclear envelope. mutations are frequently single base changes that cause diverse disease phenotypes affecting muscles, nerves, and fat. Read More

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October 2021

Several challenges associated with the anesthetic management of Emery-Dreifuss muscular dystrophy patients: case report.

Braz J Anesthesiol 2021 Oct 5. Epub 2021 Oct 5.

Centro Hospitalar E Universitário de Coimbra, E.P.E, Coimbra, Portugal.

Emery-Dreifuss Muscular Dystrophy is a very rare type of muscular dystrophy, associated with contractures, atrophy, and muscle weakness, besides cardiomyopathy with severe arrhythmias. Published studies focusing on this disorder are scarce. We describe the anesthetic management of a male patient with Emery-Dreifuss Muscular Dystrophy, to be submitted to umbilical and inguinal hernioplasty and hydrocele repair under epidural anesthesia. Read More

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October 2021

A CRISPR/Cas9 zebrafish lamin A/C mutant model of muscular laminopathy.

Dev Dyn 2022 04 18;251(4):645-661. Epub 2021 Oct 18.

Department of Biology, Faculty of Science, University of Ottawa, Ottawa, Ontario, Canada.

Background: Lamin A/C gene (LMNA) mutations frequently cause cardiac and/or skeletal muscle diseases called striated muscle laminopathies. We created a zebrafish muscular laminopathy model using CRISPR/Cas9 technology to target the zebrafish lmna gene.

Results: Heterozygous and homozygous lmna mutants present skeletal muscle damage at 1 day post-fertilization (dpf), and mobility impairment at 4 to 7 dpf. Read More

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[A case of laminopathy with the mutation of LMNA gene identified by the exome analysis of disease-related genes].

Rinsho Shinkeigaku 2021 Oct 25;61(10):663-670. Epub 2021 Sep 25.

Department of Neurology, Faculty of Medicine, Oita University.

Laminopathy, caused by mutations in the LMNA gene, include a variety of diseases, such as Emery-Dreifuss muscular dystrophy. A Japanese woman developed progressive muscle weakness, muscle atrophy and joint contractures of upper and lower limbs after the age of two years old. She had restrictive respiratory dysfunction, and developed both supraventricular and ventricular arrhythmias after the fourth decade of life. Read More

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October 2021

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.

Ann Clin Transl Neurol 2021 10 15;8(10):2052-2058. Epub 2021 Sep 15.

Texas Children's Hospital, Houston, Texas, 77030, USA.

Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%-30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data. Here, we describe how deep clinicopathological phenotyping yielded a molecular diagnosis for a 19-year-old proband with muscular dystrophy and negative clinical ES. Read More

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October 2021

Generation of a laminopathies-specific iPSC line EHTJUi005-A-3 with homozygous knockout of the LMNA gene by CRISPR/Cas9 technology.

Stem Cell Res 2021 10 3;56:102530. Epub 2021 Sep 3.

Institute for Regenerative Medicine, National Stem Cell Translational Resource Center, Shanghai East Hospital, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China. Electronic address:

LAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope. The loss of expression and function of the LMNA gene would lead to the occurrence of congenital muscular dystrophy and Emery-Dreifuss muscular dystrophy which are collectively named as laminopathies. Here, we report a human induced pluripotent stem cell (iPSC) line (EHTJUi005-A-3) generated from a wild iPSC (EHTJUi005-A) with homozygous knockout of the gene LMNA through CRISPR/Cas9. Read More

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October 2021

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies.

Cell Rep 2021 08;36(8):109601

Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, 75013 Paris, France. Electronic address:

Cofilins are important for the regulation of the actin cytoskeleton, sarcomere organization, and force production. The role of cofilin-1, the non-muscle-specific isoform, in muscle function remains unclear. Mutations in LMNA encoding A-type lamins, intermediate filament proteins of the nuclear envelope, cause autosomal Emery-Dreifuss muscular dystrophy (EDMD). Read More

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Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1.

Stem Cell Res 2021 08 5;55:102487. Epub 2021 Aug 5.

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

Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients bearing a mutation c.del153C and from one healthy donor. Read More

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SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy.

Genes (Basel) 2021 07 14;12(7). Epub 2021 Jul 14.

Clinical Infectious Diseases Hospital, Street 100 Ferdinand, 900709 Constanta, Romania.

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and cardiomyopathy, sometimes requiring an implantable cardioverter-defibrillator (ICD) or heart transplantation due to severe heart damage. The case described herein concerns a 16-year-old girl, with grade II obesity, without other known pathological antecedents or cardiac pathology diagnosis given an annual history of cardiological investigations. She was admitted to the Infectious Diseases Department with SARS-CoV-2 virus infection. Read More

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Adenine base editing to treat progeria syndrome and extend the lifespan.

Kiran Musunuru

J Cardiovasc Aging 2021 17;1. Epub 2021 Jun 17.

Division of Cardiology and Cardiovascular Institute, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

Hutchinson-Gilford progeria syndrome (HGPS) is an exceedingly rare and hitherto incurable and fatal disease marked by accelerated aging simultaneously affecting a number of organs. Most cases of HGPS are caused by a single copy of a specific single-nucleotide mutation, c.C1824T, in the (lamin A) gene. Read More

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Emerin Represses STAT3 Signaling through Nuclear Membrane-Based Spatial Control.

Int J Mol Sci 2021 Jun 22;22(13). Epub 2021 Jun 22.

Department of Bioresources Engineering, Sejong University, Seoul 05006, Korea.

Emerin is the inner nuclear membrane protein involved in maintaining the mechanical integrity of the nuclear membrane. Mutations in EMD encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD). Evidence is accumulating that emerin regulation of specific gene expression is associated with this disease, but the exact function of emerin has not been fully elucidated. Read More

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At the nuclear envelope of bone mechanobiology.

Bone 2021 10 26;151:116023. Epub 2021 May 26.

Boise State University, Mechanical and Biomedical Engineering, United States of America. Electronic address:

The nuclear envelope and nucleoskeleton are emerging as signaling centers that regulate how physical information from the extracellular matrix is biochemically transduced into the nucleus, affecting chromatin and controlling cell function. Bone is a mechanically driven tissue that relies on physical information to maintain its physiological function and structure. Disorder that present with musculoskeletal and cardiac symptoms, such as Emery-Dreifuss muscular dystrophies and progeria, correlate with mutations in nuclear envelope proteins including Linker of Nucleoskeleton and Cytoskeleton (LINC) complex, Lamin A/C, and emerin. Read More

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October 2021

Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children.

Front Cardiovasc Med 2021 7;8:668231. Epub 2021 May 7.

World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russia.

Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years after skeletal muscle presentation, though, could be severe and life-threatening. The defined clinical manifestation with joint contractures, progressive muscle weakness and atrophy, as well as cardiac symptoms are observed by the third decade of life. Read More

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Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.

Int J Mol Sci 2021 Apr 20;22(8). Epub 2021 Apr 20.

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

Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the gene (OMIM *125660) and A-type lamins by the gene (OMIM *150330), have been involved in striated muscle disorders. Read More

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Role of in the Emery-Dreifuss Muscular Dystrophy Cardiac Phenotype.

Biomolecules 2021 04 6;11(4). Epub 2021 Apr 6.

Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi, 20122 Milan, Italy.

The locus is one of the most studied tumor suppressor loci in the context of several cancer types. However, in the last years, its expression has also been linked to terminal differentiation and the activation of the senescence program in different cellular subtypes. Knock-out (KO) of the entire locus enhances the capability of stem cells to proliferate in some tissues and respond to severe physiological and non-physiological damages in different organs, including the heart. Read More

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