[HTML][HTML] Skeletal muscle mitochondria dysfunction in genetic neuromuscular disorders with cardiac phenotype

E Ignatieva, N Smolina, A Kostareva… - International Journal of …, 2021 - mdpi.com
… Genetically determined neuromuscular disorders occur as a result of mutations in the … are
often combined with cardiac phenotype, which most often manifests as a cardiomyopathy. The …

Left ventricular hypertrabeculation/noncompaction, cardiac phenotype, and neuromuscular disorders

C Stöllberger, C Wegner, J Finsterer - Herz, 2019 - search.proquest.com
… The cardiac phenotype was defined from the baseline … of the cardiac phenotype by applying
the Position Statement of the European Society of Cardiology [11]: 4 The phenotype was …

[HTML][HTML] Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset

R Ditaranto, G Boriani, M Biffi, M Lorenzini… - Orphanet Journal of …, 2019 - Springer
… Similarly, LMNA-related neuromuscular disorders are characterized by a wide heterogeneity
in clinical manifestations, Emery Dreifuss muscular dystrophy (EDMD) being the most …

Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review

E Arbustini, A Di Toro, L Giuliani, V Favalli… - Journal of the American …, 2018 - jacc.org
… HCM is the typical cardiac phenotype observed in patients with FRDA, a rare (1:50,000
prevalence) AR neuromuscular disease caused by homozygous GAA expansions in the first …

Sudden cardiac death in neuromuscular disorders

J Finsterer, C Stöllberger, C Maeztu - International journal of cardiology, 2016 - Elsevier
… SCD may also occur in patients with neuromuscular disorders (NMDs) since the heart is
frequently … The phenotype may follow a syndromic or a non-syndromic pattern [13]. Cardiac

Cardiomyopathy in neuromuscular disorders

LM Dellefave, EM McNally - Progress in Pediatric cardiology, 2007 - Elsevier
… Dysrhythmias were reported with increasing age and were equally distributed between
carriers who presented with either a neuromuscular phenotype or cardiac-restricted phenotype. …

Cardiovascular complications of neuromuscular disorders

B Sachdev, PM Elliott, WJ McKenna - … Treatment Options in Cardiovascular …, 2002 - Springer
… of cardiac and skeletal muscle cells. The clinical manifestation of cardiac disease in
neuromuscular disorders is common and their management should include both periodic cardiac

[HTML][HTML] Myocardial and arrhythmic spectrum of neuromuscular disorders in children

A Baban, V Lodato, G Parlapiano, C di Mambro… - Biomolecules, 2021 - mdpi.com
… them due to the increased cardiac and therapeutic options related to these disorders. …
myocardial phenotype in adults carrying major triplet repeats (genotype–phenotype correlation). …

Cardiac manifestations of neuromuscular disorders in children

DT Hsu - Paediatric Respiratory Reviews, 2010 - Elsevier
… children with neuromuscular disorders that have the potential for cardiac involvement. This
review discusses the cardiac findings associated with specific neuromuscular disorders and …

Neuromuscular disorders and the role of the clinical electrophysiologist

H Ismail, E Raynor, P Zimetbaum - JACC: Clinical Electrophysiology, 2017 - jacc.org
… aggressive cardiac phenotype that may be recognized early in the disease (8), phenotypic
… in a wide spectrum of clinical and cardiac manifestations even within members of the same …