Progressive External Ophthalmoplegia and Vision and Hearing Loss in a Patient With Mutations in POLG2 and OPA1

OBJECTIVE: To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase γ (POLG2) and a mutation in the OPA1 gene. DESIGN: Clinical examination and morphological, biochemical,...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ferraris, Silvio, Clark, Susanna, Garelli, Emanuela, Davidzon, Guido, Moore, Steven A., Kardon, Randy H., Bienstock, Rachelle J., Longley, Matthew J., Mancuso, Michelangelo, Ríos, Purificación Gutiérrez, Hirano, Michio, Copeland, William C., DiMauro, Salvatore
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2364721/
https://ncbi.nlm.nih.gov/pubmed/18195150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2007.9
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados