Genes, Vol. 10, Pages 919: X-Linked Emery –Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research

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Publication date: Available online 29 October 2019Source: Journal of Cardiology CasesAuthor(s): Masanobu Taya, Eisuke Amiya, Masaru Hatano, Hisataka Maki, Yumiko Hosoya, Junichi Ishida, Chie Bujo, Masaki Tsuji, Yuto Konishi, Kazuhiko Yokota, Nobuhiko Haga, Issei KomuroAbstractRespiratory muscle weakness is often complicated in patients with heart failure. Its presence further worsens the clinical course of heart failure. However, the effect and appropriate method of inspiratory muscle training has not previously been elucidated.A 55-year-old man with dilated cardiomyopathy was admitted for intractable heart failure. His he...
Source: Journal of Cardiology Cases - Category: Cardiology Source Type: research
Abstract The Popeye domain-containing gene family encodes a novel class of cAMP effector proteins in striated muscle tissue. In this short review, we first introduce the protein family and discuss their structure and function with an emphasis on their role in cyclic AMP signalling. Another focus of this review is the recently discovered role of POPDC genes as striated muscle disease genes, which have been associated with cardiac arrhythmia and muscular dystrophy. The pathological phenotypes observed in patients will be compared with phenotypes present in null and knockin mutations in zebrafish and mouse. A number ...
Source: Biochemical Society Transactions - Category: Biochemistry Authors: Tags: Biochem Soc Trans Source Type: research
AbstractTheLMNA 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.1129C>T p.Arg377Cys variant in the exon 6 of theLMNA gene in three of them. Clinical, laboratorial, imaging investigation of these affected patients showed a significant clinical variability: the father presented subclinical imaging ...
Source: Journal of Molecular Neuroscience - Category: Neuroscience Source Type: research
Background and Aims: Duchenne Muscular Dystrophy (DMD) is a progressive muscle-wasting disease. Besides skeletal muscle degeneration, important sources of morbidity and mortality are dilated cardiomyopathy, arrhythmias and vascular dysfunction. There is substantial evidence that Tenascin C (TN-C) plays role in left ventricular (LV) remodelling and its serum levels are associated with the severity of LV dysfunction in patients with heart failure. Additionally, recent studies demonstrate that endothelial dysfunction may contribute to the progression of dilated cardiomyopathy.
Source: Atherosclerosis - Category: Cardiology Authors: Tags: Posters 26 - 29 May, 2019 Source Type: research
Authors: D'Ambrosio P, Petillo R, Torella A, Papa AA, Palladino A, Orsini C, Ergoli M, Passamano L, Novelli A, Nigro V, Politano L Abstract Mutations in the LMNA 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 LMNA-related dystrophy; autosomal dominant Emery-Dreifuss muscular dystrophy; and a congenital form of muscular dystrophy, frequently associated with early onset of arrhythmias. Heart involvement m...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Authors: Palladino A, Papa AA, Morra S, Russo V, Ergoli M, Rago A, Orsini C, Nigro G, Politano L Abstract Cardiomyopathy associated with dystrophinopathies - Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-CM) and cardiomyopathy of Duchenne/Becker (DMD/BMD carriers - is an almost constant manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Dystrophinopathic cardiomyopathy is the result of the dystrophin protein deficiency at the myocardium level, parallel to that occurring at the skeletal muscle level....
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Emery-Dreifuss muscular dystrophy (EDMD) is an early-onset, usually in the first decade, slowly progressive myopathy [1]. EDMD is mainly caused either by mutations in EMD gene encoding emerin in X-linked EDMD (X-EDMD) [2], or mutations in LMNA gene encoding lamins A and C in autosomal dominant and recessive forms [3]. EDMD clinical presentation includes the classical triad of symptoms with early joint contractures involving Achilles, elbows and the neck tendons, progressive muscle weakness and wasting beginning in the humero and peroneal regions, and cardiac disease combining cardiac arrhythmias, conduction defects and cardiomyopathy [4,5].
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research
Conduction disease and arrhythmias represent a major cause of mortality in myotonic muscular dystrophy type 1 (MMD1). Permanent pacemaker (PPM) implantation is the cornerstone of therapy to reduce cardiovascul...
Source: Journal of Cardiovascular Magnetic Resonance - Category: Radiology Authors: Tags: Research Source Type: research
We report the case of a 44 year old patient with Steinert disease who showed an early onset ventricular dysfunction refractory to optimal medical and cardiac resincronization therapy, and underwent to successful heart transplantation. At our knowledge, this is the second heart transplantation performed in a patient affected by Steinert disease after the one reported by Conraads et al in 2002. PMID: 30944906 [PubMed - in process]
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Little is known about sudden cardiac death risk and arrhythmias in boys with Duchenne muscular dystrophy(DMD). The goal of the study is to describe ECG findings and arrhythmia burden in a multi-center contemporary cohort of boys with DMD.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: 1174 Source Type: research
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