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Article

Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.

Journal of medical case reports - 8 Oct 2024

Stalter Johannes, Gies Ursula, Mathys Christian, Witt Karsten

Abstract excerpt

BACKGROUND: Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life. CASE PRESENTATION: In this case report we present the diagnostic work-up of a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39375813
DOI: 10.1186/s13256-024-04802-x
PMCID: PMC11460110

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