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Article

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'.

Neuromuscular disorders : NMD - 1 Sept 1997

Rubio J C, Martín M A, Bautista J, Campos Y, Segura D, Arenas J

Abstract excerpt

We studied a 25-year-old man with paresis of the limbs and neck, scapular atrophy, facial weakness, exercise intolerance and frequent episodes of myoglobinuria. Muscle histochemistry and biochemistry revealed a combined defect of myophosphorylase and AMP deaminase. Molecular genetic analysis showed that the patient was homozygous for the two most common mutations associated with myophosphorylase and AMP deaminase...

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PMID: 9327403
DOI: 10.1016/s0960-8966(97)00095-3

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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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