Mitochondrial myopathy, dysmorphism, exercise-induced vomiting and tachycardia the mutation m.4831G > A

Mitochondrial myopathy, dysmorphism, exercise-induced vomiting and tachycardia the mutation m.4831G > A☆

Clevudine Induced Mitochondrial Myopathy

Clevudine was approved as an antiviral agent for hepatitis B virus, which showed marked, rapid inhibition of virus replication without significant toxicity. However, several studies have reported myopathy associated with clevudine therapy. Also, we experienced seven patients who suffered from myopathy during clevudine therapy. To characterize clevudine-induced myopathy, we collected previously ...

Exercise-induced vomiting

Gastrointestinal (GI) symptoms are common complaints reported by sportsmen. The incidence of such problems visibly differs in various data sources, but it concerns at least 20% [1] of athletes, in some studies reaching even 70% [2]. The occurrence of GI disorders depends on age, sex, training history and physical performance [1]. It also noticeably differs in various sport disciplines. In gener...

A tRNA mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy

M ore than 100 pathogenic mitochondrial (mt) DNA mutations have been described in the past decade in association with different neuromuscular disorders. Apart from large scale mtDNA rearrangements and common point mutations in mt tRNA genes, pathogenic mutations affecting structural genes of mtDNA encoded respiratory chain subunits have been reported as well. Pathogenic tRNA mutations can affec...

A Gain-of-Function Mutation of the SCN5A Gene Causes Exercise-induced Polymorphic Ventricular Arrhythmias Swan et al. SCN5A Mutation Causing Exercise-Induced Polymorphic Tachycardia

Background. Over the past 15 years, a myriad of mutations in genes encoding cardiac ion channels and ion channel interacting proteins have been linked to a long list of inherited atrial and ventricular arrhythmias. The purpose of this study was to identify the genetic and functional determinants underlying exercise-induced polymorphic ventricular arrhythmia present in a large multi-generational...