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. 2021 Jun 1;22(4):224-227.
doi: 10.1097/CND.0000000000000339.

Glycogen Debrancher Enzyme Deficiency Myopathy

Menachem Sadeh  1 , Keren Yosovich  2 , Ron Dabby  1
Affiliations

Glycogen Debrancher Enzyme Deficiency Myopathy

Menachem Sadeh et al. J Clin Neuromuscul Dis. .

Abstract

Glycogen storage disease type III is a rare inherited disease caused by decreased activity of glycogen debranching enzyme. It affects primarily the liver, cardiac muscle, and skeletal muscle. Pure involvement of the skeletal muscle with adult onset is extremely rare. We report on a patient with myopathy due to glycogen storage disease III, and describe the clinical features, and pathologic and genetic findings.

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Conflict of interest statement

The authors report no conflicts of interest.

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