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Article

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.

Neurology - 1 Jan 1998

Bruno C, Minetti C, Shanske S, Morreale G, Bado M, Cordone G, DiMauro S

Abstract excerpt

A 14-year-old boy with exercise-related myalgia and cramps had several episodes of myoglobinuria since early childhood. An episode at 2 years of age caused acute renal failure. Histochemical and biochemical analysis of muscle showed a combined defect of phosphofructokinase (PFK) and adenosine monophosphate (AMP) deaminase. DNA analysis showed that the patient was homozygous for a G-to-C substitution at codon 39...

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Identifiers

PMID: 9443500
DOI: 10.1212/wnl.50.1.296

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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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