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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Clin Transl Neurol
Prif Awduron: Tian, Wo‐Tu, Zhou, Hai‐Yan, Zhan, Fei‐Xia, Zhu, Ze‐Yu, Yang, Jie, Chen, Sheng‐Di, Luan, Xing‐Hua, Cao, Li
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Research Articles
Mynediad Ar-lein: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
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