Página principal > Artículos > New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: Neonatal, infantile, and childhood onset
Resumen: The reported cases showed clinical, biochemical, histopathological, and molecular features lending support to the hypothesis of a pathogenic effect of the detected mutations. Case 1 was a neonatal presentation who showed multiple mitochondrial respiratory chain enzyme defects in muscle associated with a new homoplasmic m.5514A > G transition in the tRNATrp gene. Case 2 was a late infantile presentation who also showed mitochondrial respiratory chain enzyme deficiencies in muscle together with a new m.1643A > G tRNAVal mutation in homoplasmy. Case 3 showed a MERRF phenotype presented in childhood associated with the once previously reported m.15923A > G mutation in heteroplasmy in all the tissues studied. Idioma: Inglés DOI: 10.1007/s10048-012-0322-0 Año: 2012 Publicado en: NEUROGENETICS 13, 3 (2012), 245-250 ISSN: 1364-6745 Factor impacto JCR: 3.575 (2012) Categ. JCR: CLINICAL NEUROLOGY rank: 38 / 189 = 0.201 (2012) - Q1 - T1 Categ. JCR: GENETICS & HEREDITY rank: 51 / 160 = 0.319 (2012) - Q2 - T1 Tipo y forma: Artículo (Versión definitiva) Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)