Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

AIMS: Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity. SURF1 gene mutations are among the most frequent causes of LS. Although deficiency of cytochrome c oxidase (COX) is a typical feature of the muscle in SURF1-deficient LS, other abn...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Pronicki, M, Matyja, E, Piekutowska-Abramczuk, D, Szymańska-Dębińska, T, Karkucińska-Więckowska, A, Karczmarewicz, E, Grajkowska, W, Kmieć, T, Popowska, E, Sykut-Cegielska, J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2008
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2571978/
https://ncbi.nlm.nih.gov/pubmed/17908801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jcp.2007.051060
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados