Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T

OBJECTIVE: GDP‐mannose pyrophosphorylase B (GMPPB) related phenotype spectrum ranges widely from congenital myasthenic syndrome (CMS), limb‐girdle muscular dystrophy type 2T (LGMD 2T) to severe congenital muscle‐eye‐brain syndrome. Our study investigates the clinicopathologic features of a patient w...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Tian, Wo‐Tu, Zhou, Hai‐Yan, Zhan, Fei‐Xia, Zhu, Ze‐Yu, Yang, Jie, Chen, Sheng‐Di, Luan, Xing‐Hua, Cao, Li
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6562035/
https://ncbi.nlm.nih.gov/pubmed/31211170
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.787
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados