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Article

Phenotype modulators in myophosphorylase deficiency.

Annals of neurology - 1 Apr 2003

Martinuzzi Andrea, Sartori Elena, Fanin Marina, Nascimbeni Annachiara, Valente Lucia, Angelini Corrado, Siciliano Gabriele, Mongini Tiziana, Tonin Paola, Tomelleri Giuliano, Toscano Antonio, Merlini Luciano, Bindoff Laurence A, Bertelli Stefano

Abstract excerpt

Myophosphorylase deficiency is characterized by exercise intolerance, muscle cramps, and recurrent myoglobinuria. Some patients are severely affected, whereas others are minimally affected or asymptomatic. The molecular basis of the disease has been elucidated but does not provide an explanation for the clinical variability. In a large cohort of patients with myophosphorylase deficiency, we tested the hypothesis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12666117
DOI: 10.1002/ana.10499

Genes

ACE
AMPD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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