title: Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.
abstract: We report an Italian family with maternally inherited encephalomyopathy including progressive external ophthalmoplegia, seizures, and neurophysiological evidence of brainstem dysfunction. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 5814 in the tRNA gene for cysteine (A5814G), previously reported in a 5-year-old girl of Portuguese origin. The mutation was very abundant (> 95%) in both muscle and blood from the proposita and was present in lower proportions (average 85 +/- 6%) in blood from three less severely affected maternal relatives. This observation confirms pathogenicity for the A5814G mutation.
authors.affiliation: Department of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University, New York, NY 10032, USA.
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.forename: C
authors.initials: C
authors.lastname: Casali
authors.forename: M G
authors.initials: MG
authors.lastname: Basirico
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: F
authors.initials: F
authors.lastname: Calvosa
authors.forename: F
authors.initials: F
authors.lastname: Sartucci
authors.forename: L
authors.initials: L
authors.lastname: Bonfiglio
authors.forename: L
authors.initials: L
authors.lastname: Murri
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012350:RNA, Transfer, Cys / Q000235:genetics*
chemical_list: D012350:RNA, Transfer, Cys