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Neuromuscular Disorders

A Systematic Review of Late-onset and Very-late-onset Multiple Acyl-coenzyme A Dehydrogenase…

Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), which is also called glutaric aciduria type II, is a rare autosomal recessive inherited disorder of fatty acid oxidation that is mainly caused by pathogenic variants in ETFA, ETFB,…

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial…

DNA polymerase gamma (POLγ) is a nuclear-encoded protein that replicates mitochondrial DNA (mtDNA). Human POLγ is a heterotrimer comprising the catalytic POLγA subunit and a dimeric POLγB processivity factor . POLγA has 5′-3′ DNA polymerase…

Characterization of Cannabis Use by Patients with Myotonic Dystrophy Type 1: a pilot study

Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease characterized by the presence of progressive muscle weakness and myotonia . Patients also often report pain, fatigue, impaired sleep and diverse functional limitations…

Prevalence of Atrial Fibrillation in Myotonic Dystrophy type 1: a systematic review

Myotonic dystrophy type 1 (DM1) is the most prevalent inherited neuromuscular disease of adult life, with an estimated incidence of 1:8000 births and a worldwide prevalence that ranges from 2.1 to 14/100000 inhabitants1. Cardiac involvement…