title: Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.
authors.forename: G
authors.initials: G
authors.lastname: Manfredi
authors.forename: E A
authors.initials: EA
authors.lastname: Schon
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: C T
authors.initials: CT
authors.lastname: Moraes
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D019143:Evolution, Molecular; D005260:Female; D006801:Humans; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D018485:Muscle Fibers, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D012350:RNA, Transfer, Cys / Q000737:chemistry / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D012350:RNA, Transfer, Cys; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV