A carregar...

MYOPATHY AND PARKINSONISM IN PHOSPHOGLYCERATE KINASE DEFICIENCY

A 25-year-old man with exertional myoglobinuria had no evidence of hemolytic anemia, but he had severe parkinsonism that was responsive to levodopa. Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the PGK1 gene identified the p.T378P mutation that w...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Muscle Nerve
Main Authors: SOTIRIOU, EVANGELIA, GREENE, PAUL, KRISHNA, SINDU, HIRANO, MICHIO, DIMAURO, SALVATORE
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8285082/
https://ncbi.nlm.nih.gov/pubmed/20151463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.21612
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!