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Article

The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.

Journal of Korean medical science - 1 Jul 2014

Park Hyung Jun, Shin Ha Young, Cho Yu Na, Kim Seung Min, Choi Young-Chul

Abstract excerpt

Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum...

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Identifiers

PMID: 25045239
DOI: 10.3346/jkms.2014.29.7.1021
PMCID: PMC4101771

Genes

PYGM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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