The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa

Objective: To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of late-onset GSD IIIa caused by mutation of the AGL gene in adults. Methods: The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with late-o...

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Detalles Bibliográficos
Autores principales: Qu, Qianqian, Qian, Qi, Shi, Jiejing, Liu, Haiyan, Zhang, Yan, Cui, Wenhao, Chen, Ping, Lv, Haidong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710805/
https://www.ncbi.nlm.nih.gov/pubmed/33329302
http://dx.doi.org/10.3389/fneur.2020.554012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710805/
https://www.ncbi.nlm.nih.gov/pubmed/33329302
http://dx.doi.org/10.3389/fneur.2020.554012

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