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

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-on...

Full description

Bibliographic Details
Main Authors: Qianqian Qu, Qi Qian, Jiejing Shi, Haiyan Liu, Yan Zhang, Wenhao Cui, Ping Chen, Haidong Lv
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Neurology
Subjects:
glycogen storage disease type III
glycogen debrancher enzyme
gene mutation
skeletal muscle MRI
AGL gene
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2020.554012/full

Similar Items

Similar Items