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Article

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.

Neuromuscular disorders : NMD - 1 Nov 2009

Tonin Paola, Bruno Claudio, Cassandrini Denise, Savio Chiara, Tavazzi Eleonora, Tomelleri Giuliano, Piccolo Giovanni

Abstract excerpt

Phosphoglycerate mutase (PGAM) deficiency causes a rare metabolic myopathy characterized by exercise-related myalgia and myoglobinuria. This disorder was described in 13 patients and five different mutations in the PGAM-M gene were identified. We report on a new patient with an unusual clinical presentation. As a youth, he participated in different sports without complaining of muscular symptoms, but at 44 years...

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PMID: 19783439
DOI: 10.1016/j.nmd.2009.08.007

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

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