title: Fulminant respiratory muscle paralysis, an expanding clinical spectrum of mitochondrial A3243G tRNALeu mutation.
abstract: Mitochondrial disease is a group of rare disorders, caused by mitochondrial dysfunction. They are usually the result of mutations of either mitochondrial DNA or nuclear DNA. A3243G transition in the tRNALeu is one the most frequent mutations of the mitochondrial DNA. Phenotypic expression of this mutation varies. The most well-recognized phenotype is Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Isolated myopathy with respiratory muscle weakness in this mutation has been rarely documented. The authors reported a 20-year-old Asian female presenting with a fulminant hypoventilatory respiratory failure with mild weakness of the limbs. Electrophysiologic study showed evidences of myopathy. Restrictive physiology of the lungs was demonstrated by pulmonary function test. Subsarcolemmal accumulation of mitochondria was demonstrated by Gomori trichrome and succinate dehydrogenase stains. Genetic study revealed the A3243G mutation in mitochondrial DNA in peripheral blood Isolated mitochondrial myopathy severely affecting respiratory muscles may be considered as an uncommon clinical spectrum of A3243G mitochondrial disease.
authors: Jakkrit
authors: J
authors: Amornvit
authors: Nath
authors: N
authors: Pasutharnchat
authors: Monvasi
authors: M
authors: Pachinburavan
authors: Sungkom
authors: S
authors: Jongpiputvanich
authors: Yutthana
authors: Y
authors: Joyjinda
mesh_terms: D005260:Female; D006801:Humans; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009154:Mutation / Q000235:genetics*; D012356:RNA, Transfer, Leu / Q000235:genetics*; D012133:Respiratory Paralysis / Q000235:genetics*; D055815:Young Adult
chemical_list: D012356:RNA, Transfer, Leu