898 results match your criteria: "Emery-Dreifuss Muscular Dystrophy"
Cureus
November 2024
Stroke Unit, Centro Hospitalar Tondela-Viseu, Viseu, PRT.
Emery-Dreifuss muscular dystrophy type 2 (EDMD2) is a rare autosomal dominant neuromuscular disorder caused by LMNA gene mutations and characterized by progressive skeletal muscle weakness and significant cardiac involvement. We report the case of a 45-year-old woman who presented with sudden-onset, left-sided hemiparesis and dysarthria. Initial imaging was unremarkable, and symptoms transiently improved, suggesting a transient ischemic attack.
View Article and Find Full Text PDFFront Genet
November 2024
Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Introduction: Inherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial. We report a non-familial (sporadic) case of partial lipodystrophy caused by a novel genetic mechanism involving closely linked pathogenic variants in the gene.
Methods: A female adult with partial lipodystrophy and her parents were evaluated for gene variants across the exome under different mendelian inheritance models (autosomal dominant, recessive, compound heterozygous, and X-linked) to find pathogenic variants.
Neuromuscul Disord
November 2024
Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:
Mol Syndromol
December 2024
Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.
Cardiol Young
November 2024
Department of Paediatric Cardiology, Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Aim: This study aims to evaluate the clinical characteristics and outcomes of children diagnosed with sinus node dysfunction.
Methods: This was a retrospective review of patients diagnosed with sinus node dysfunction in two tertiary paediatric cardiology centres in Turkey from January 2011 to June 2022.
Results: In all, 77 patients (50, 64.
Muscular dystrophy encompasses a group of genetic conditions with progressive muscle damage and weakness. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders that affect the production of the protein dystrophin. Emery-Dreifuss muscular dystrophy (EDMD) is typically an X-linked-recessive disorder involving the gene that codes for emerin.
View Article and Find Full Text PDFCureus
October 2024
Family Medicine, Edward Via College of Osteopathic Medicine, Spartanburg, USA.
Stem Cell Res
December 2024
Shulan International Medical College, Zhejiang Shuren University, Hangzhou 310015, China. Electronic address:
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. In this study, a lamin A/C knockout human induced pluripotent stem cell line was successfully generated using the CRISPR/Cas9 genome-editing technology, which was confirmed with normal pluripotency and karyotype.
View Article and Find Full Text PDFJ Neuromuscul Dis
September 2024
Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
Introduction: Nuclear envelopathies occur due to structural and/or functional defects in various nuclear envelope proteins such as lamin A/C and lamin related proteins. This study is the first report on the phenotype-genotype patterns of nuclear envelopathy-related muscular dystrophies from India.
Methods: In this retrospective study, we have described patients with genetically confirmed muscular dystrophy associated with nuclear envelopathy.
Minerva Pediatr (Torino)
December 2024
Department of Neurology, Anhui Province Children's Hospital, Hefei, China -
Front Nutr
April 2024
Division of Metabolic Diseases and Clinical Nutrition, Department of Specialist Medicines, University Hospital of Modena and Reggio Emilia - Policlinico, Modena, Italy.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare, inherited human disease. Similar to other neuromuscular dystrophies, EDMD is clinically characterized by muscle atrophy and weakness, multi-joint contractures with spine rigidity, and cardiomyopathy. Over time, muscular weakness can lead to dysphagia and a severe lowering of body mass index (BMI), worsening the prognosis.
View Article and Find Full Text PDFIn Vitro Cell Dev Biol Anim
August 2024
Department of Pathophysiology, Tokyo Medical University, Tokyo, Japan.
J Biol Chem
May 2024
King's College London British Heart Foundation Centre of Research Excellence, School of Cardiovascular and Metabolic Medicine & Sciences, London, UK. Electronic address:
Nesprins comprise a family of multi-isomeric scaffolding proteins, forming the linker of nucleoskeleton-and-cytoskeleton complex with lamin A/C, emerin and SUN1/2 at the nuclear envelope. Mutations in nesprin-1/-2 are associated with Emery-Dreifuss muscular dystrophy (EDMD) with conduction defects and dilated cardiomyopathy (DCM). We have previously observed sarcomeric staining of nesprin-1/-2 in cardiac and skeletal muscle, but nesprin function in this compartment remains unknown.
View Article and Find Full Text PDFCell Commun Signal
April 2024
Department of Cardiology, Yichang Central People's Hospital, Yichang, 443003, Hubei, People's Republic of China.
This review presents a comprehensive exploration of the pivotal role played by the Linker of Nucleoskeleton and Cytoskeleton (LINC) complex, with a particular focus on Nesprin proteins, in cellular mechanics and the pathogenesis of muscular diseases. Distinguishing itself from prior works, the analysis delves deeply into the intricate interplay of the LINC complex, emphasizing its indispensable contribution to maintaining cellular structural integrity, especially in mechanically sensitive tissues such as cardiac and striated muscles. Additionally, the significant association between mutations in Nesprin proteins and the onset of Dilated Cardiomyopathy (DCM) and Emery-Dreifuss Muscular Dystrophy (EDMD) is highlighted, underscoring their pivotal role in disease pathogenesis.
View Article and Find Full Text PDFCytoskeleton (Hoboken)
September 2024
Department of Thoracic Surgery, the First Affiliated Hospital of Dalian Medical University, Dalian, China.
Metastasis-associated 1 (MTA1), a subunit of the nucleosome remodeling and histone deacetylation (NuRD) corepressor complex, was reported to be expressed in the cytoplasm of skeletal muscles. However, the exact subcellular localization and the functional implications of MTA1 in skeletal muscles have not been examined. This study aims to demonstrate the subcellular localization of MTA1 in skeletal muscles and reveal its possible roles in skeletal muscle pathogenesis.
View Article and Find Full Text PDFCells
January 2024
CNR Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza", Unit of Bologna, 40136 Bologna, Italy.
In muscle cells subjected to mechanical stimulation, LINC complex and cytoskeletal proteins are basic to preserve cellular architecture and maintain nuclei orientation and positioning. In this context, the role of lamin A/C remains mostly elusive. This study demonstrates that in human myoblasts subjected to mechanical stretching, lamin A/C recruits desmin and plectin to the nuclear periphery, allowing a proper spatial orientation of the nuclei.
View Article and Find Full Text PDFWiad Lek
December 2023
UZHHOROD NATIONAL UNIVERSITY, UZHHOROD, UKRAINE.
A 25-year-old male with known EDMD was referred for the cardiology consultation due to symptoms of heart failure. Echocardiography showed decrease left ventricular ejection fraction (LVEF) and therapy with ramipril, torsemide and rivaroxaban was initiated. Despite initial improvement, the patient later developed presyncope, bradycardia, irregular heartbeat and worsening of dyspnea.
View Article and Find Full Text PDFNeurol Genet
December 2023
From the Paul & Sheila Wellstone Muscular Dystrophy Center (P.B.K.), Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis; Department of Pediatrics (M.J.-F., Y.M.), University of Florida College of Medicine, Gainesville; Department of Epidemiology and Biostatistics (W.Z.), University of South Carolina, Columbia; Department of Environmental, Occupational, and Geospatial Health Sciences (S.W.M.), Graduate School of Public Health and Health Policy, City University of New York; Division of Population Health Surveillance (R.B., C.W.), Bureau of Maternal and Child Health, South Carolina Department of Health and Environmental Control, Columbia; Department of Human and Molecular Genetics (C.C.), Virginia Commonwealth University, Richmond; Department of Pediatrics (K.N.W.), University of Utah, Salt Lake City; New York State Department of Health (S.T.), Albany; Department of Neurology (Y.S.V.), University of South Carolina, Columbia; RTI International (N.W.), Research Triangle Park, NC; and Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond.
Background And Objectives: To report the genetic etiologies of Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), congenital muscular dystrophy (CMD), and distal muscular dystrophy (DD) in 6 geographically defined areas of the United States.
Methods: This was a cross-sectional, population-based study in which we studied the genes and variants associated with muscular dystrophy in individuals who were diagnosed with and received care for EDMD, LGMD, CMD, and DD from January 1, 2008, through December 31, 2016, in the 6 areas of the United States covered by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR). Variants of unknown significance (VUSs) from the original genetic test reports were reanalyzed for changes in interpretation.
Eur Heart J
December 2023
Department of Experimental Cardiology, Heart Centre, Amsterdam UMC location, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
J Physiol Sci
November 2023
Department of Pathophysiology, Tokyo Medical University, Tokyo, Japan.
Emery-Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities. To elucidate the pathophysiological mechanisms underlying striated muscle involvement in EDMD, we previously established a murine model with mutations in Emd and Lmna (Emd/Lmna; EH), and reported exacerbated skeletal muscle phenotypes and no notable cardiac phenotypes at 12 weeks of age. We predicted that lack of emerin in Lmna mice causes an earlier onset and more pronounced cardiac dysfunction at later stages.
View Article and Find Full Text PDFFront Cell Dev Biol
October 2023
Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Clinical frailty affects ∼10% of people over age 65 and is studied in a chronically inflamed (Interleukin-10 knockout; "IL10-KO") mouse model. Frailty phenotypes overlap the spectrum of diseases ("laminopathies") caused by mutations in . encodes nuclear intermediate filament proteins lamin A and lamin C ("lamin A/C"), important for tissue-specific signaling, metabolism and chromatin regulation.
View Article and Find Full Text PDFRev Esp Anestesiol Reanim (Engl Ed)
November 2023
Department of Anesthesiology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Emery-Dreifuss muscular dystrophy is associated with cardiac abnormalities and rarely heart transplantation may be the treatment of choice. In this case, a male patient with Emery- Dreifuss muscular dystrophy developed NYHA class IV heart failure at 33 years of age and was submitted to heart transplantation. Anesthesia was adapted to prevent the development of malignant hyperthermia and rhabdomyolysis.
View Article and Find Full Text PDFEur Heart J
December 2023
Institute of Cardiovascular Science, University College London, London, UK.
Background And Aims: Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants.
View Article and Find Full Text PDFArq Bras Cardiol
July 2023
Cintesis@RISE-NursID, Porto - Portugal.
Emery-Dreifuss muscular dystrophy is a rare hereditary neuromuscular disease. Its manifestations begin primarily in childhood. The most frequent manifestations are progressive muscle weakness, atrophy that usually begins in the scapula-vertebral region, extending later to the pelvic girdle, and spinal stiffness.
View Article and Find Full Text PDFJ Clin Invest
July 2023
Department of Molecular Biology.
Mutations in genes encoding nuclear envelope proteins lead to diseases known as nuclear envelopathies, characterized by skeletal muscle and heart abnormalities, such as Emery-Dreifuss muscular dystrophy (EDMD). The tissue-specific role of the nuclear envelope in the etiology of these diseases has not been extensively explored. We previously showed that global deletion of the muscle-specific nuclear envelope protein NET39 in mice leads to neonatal lethality due to skeletal muscle dysfunction.
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