title: Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation.
abstract: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes comprises a number of mitochondrial disorders with a wide range of clinical presentations. We present the case of a 32-year-old patient with an m.3243A>T mitochondrial DNA mutation who presented with rhabdomyolysis after 2 days of excessive physical work. The case presented here demonstrates a new clinical phenotype associated with this pathogenic mtDNA mutation.
authors.affiliation: Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St.Gallen, Switzerland. david.czell@gmx.ch
authors.forename: David
authors.initials: D
authors.lastname: Czell
authors.forename: Angela
authors.initials: A
authors.lastname: Abicht
authors.forename: Jürgen
authors.initials: J
authors.lastname: Hench
authors.forename: Markus
authors.initials: M
authors.lastname: Weber
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial; D015444:Exercise; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications / Q000235:genetics*; D059352:Musculoskeletal Pain / Q000209:etiology*; D009154:Mutation; D010641:Phenotype; D012356:RNA, Transfer, Leu / Q000235:genetics*; D012206:Rhabdomyolysis / Q000209:etiology*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu