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...

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Detalles Bibliográficos
Autores principales: Tian, Wo‐Tu, Zhou, Hai‐Yan, Zhan, Fei‐Xia, Zhu, Ze‐Yu, Yang, Jie, Chen, Sheng‐Di, Luan, Xing‐Hua, Cao, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562035/
https://www.ncbi.nlm.nih.gov/pubmed/31211170
http://dx.doi.org/10.1002/acn3.787

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