New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: Neonatal, infantile, and childhood onset

Del,Mar O. ; Emperador,S. ; López-Gallardo,E. (Universidad de Zaragoza) ; Jou,C. ; Buján,N. ; Montero,R. ; Garcia-Cazorla,A. ; Gonzaga,D. ; Ferrer,I. ; Briones,P. ; Ruiz-Pesini,E. (Universidad de Zaragoza) ; Pineda,M. ; Artuch,R. ; Montoya,J. (Universidad de Zaragoza)

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: Article (Published version)

Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)