title: Mitochondrial myopathy associated with a novel mutation in mtDNA.
abstract: A 6-year-old boy had progressive muscle weakness since age 4 and emotional problems diagnosed as Asperger syndrome. His mother and two older siblings are in good health and there is no family history of neuromuscular disorders. Muscle biopsy showed ragged-red and cytochrome coxidase (COX)-negative fibers. Respiratory chain activities were reduced for all enzymes containing mtDNA-encoded subunits, especially COX. Sequence analysis of the 22 tRNA genes revealed a novel G10406A base substitution, which was heteroplasmic in multiple tissues of the patient by RFLP analysis (muscle, 96%; urinary sediment, 94%; cheek mucosa, 36%; blood, 29%). The mutation was not detected in any accessible tissues from his mother or siblings. It appears that this mutation arose de novo in the proband, probably early in embryogenesis.
authors.affiliation: Dept. of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University Medical Center, 630 W. 168th Street, New York, NY 10032, USA.
authors.forename: Jacklyn
authors.initials: J
authors.lastname: Pancrudo
authors.forename: Sara
authors.initials: S
authors.lastname: Shanske
authors.forename: Jorida
authors.initials: J
authors.lastname: Coku
authors.forename: J
authors.initials: J
authors.lastname: Lu
authors.forename: Rebecca
authors.initials: R
authors.lastname: Mardach
authors.forename: Orhan
authors.initials: O
authors.lastname: Akman
authors.forename: Sindu
authors.initials: S
authors.lastname: Krishna
authors.forename: Eduardo
authors.initials: E
authors.lastname: Bonilla
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D019943:Amino Acid Substitution; D020817:Asperger Syndrome / Q000150:complications; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009690:Nucleic Acid Conformation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012347:RNA, Transfer, Arg / Q000737:chemistry / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012347:RNA, Transfer, Arg