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Article

Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease).

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Aug 2011

Miteff F, Potter H C, Allen J, Teoh H, Roxburgh R, Hutchinson D O

Abstract excerpt

Mutations of PYGM, the gene encoding human myophosphorylase, produce a metabolic myopathy characterised by exercise intolerance and, in some patients, myoglobinuria. To illustrate the clinical and laboratory features of myophosphorylase deficiency, we describe 10 patients diagnosed in Auckland, New Zealand, between 1989 and 2009. We review the clinical, biochemical, and histologic features and the results of...

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Source

Identifiers

PMID: 21658951
DOI: 10.1016/j.jocn.2010.12.033

Genes

PYGM

Provenance

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Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease).PMID 21658951Read ↗

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