Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

Pompe disease is an autosomal recessive hereditary lysosomal disorder and correlated with acid α-glucosidase enzyme (GAA) deficiencies, which lead to accumulation of glycogen in all tissues, most notably in skeletal muscles. Adult late-onset Pompe disease (LOPD) is a slowly progressive disease of pr...

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Bibliographic Details
Main Authors: Huiting Zhang, Jun Chen, Yuchang Zhu, Xiaotang Ma, Wangtao Zhong
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Neurology
Subjects:
late-onset Pompe disease
glycogen storage disease type II
c.1411_1414del
acid α-glucosidase enzyme
metabolic myopathy
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.839263/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.839263/full

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