A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA Lys gene associated with myoclonus epilepsy with ragged-red fibers
1999; Lippincott Williams & Wilkins; Volume: 52; Issue: 2 Linguagem: Inglês
10.1212/wnl.52.2.377
ISSN1526-632X
AutoresJoaquı́n Arenas, Yolanda Campos, Belén Bornstein, Renée Ribacoba, Miguel Á. Martín, Carlos Rubio-Terrés, Filippo M. Santorelli, Massimo Zeviani, S. DiMauro, Rafael Garesse,
Tópico(s)Metabolism and Genetic Disorders
ResumoObjective: To define potential pathogenic mitochondrial DNA (mtDNA) point mutations in a patient with myoclonus epilepsy with ragged-red fibers (MERRF) syndrome.
Referência(s)