Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a 29-year-old Chinese male presenting with limb-girdle muscular dystrophy (LGMD) who was found to have...

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Detalles Bibliográficos
Autores principales: Sun, LiuQing, Shen, DingGuo, Xiong, Ting, Zhou, Zhibin, Lu, Xianghui, Cui, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202191/
https://www.ncbi.nlm.nih.gov/pubmed/30684953
http://dx.doi.org/10.17305/bjbms.2019.3992

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