What is it about?
GSD type III is due to glycogen de-branching enzyme deficiency. Eighteen different mutation found including 14 novel by using bidirectional Sanger sequencing . The clinical and biochemical features are suggested of GSD as mentioned in article
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Why is it important?
Mutational spectrum of all type of GSD is unknown from India. This article will help to initiate the comprehensive study across India that provide the help to know the disease course in Indians.
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This page is a summary of: Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III, American Journal of Medical Genetics Part A, March 2020, Wiley,
DOI: 10.1002/ajmg.a.61547.
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