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Article

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

Neuromuscular disorders : NMD - 1 Dec 2014

de Luna Noemí, Brull Astrid, Lucia Alejandro, Santalla Alfredo, Garatachea Nuria, Martí Ramon, Andreu Antoni L, Pinós Tomàs

Abstract excerpt

McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and contractures. In severe cases, these manifestations can be accompanied by rhabdomyolysis, myoglobinuria, and fatal renal failure. Diagnosis of McArdle disease is based on clinical diagnostic tests, together with an absence of myophosphorylase...

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PMID: 25240406
DOI: 10.1016/j.nmd.2014.08.002

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PYGM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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