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Article

[Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2017

Luo J H, Qiu W J, Fang D, Ye J, Han L S, Zhang H W, Yu Y G, Liang L L, Gu X F

Abstract excerpt

Objective: To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Method: Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28592009
DOI: 10.3760/cma.j.issn.0578-1310.2017.06.006

Genes

GAA

Variants

Provenance

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