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Article

Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.

Pediatric neurology - 1 Jul 1997

Skyllouriotis M L, Marx M, Bittner R E, Skyllouriotis P, Gross M, Wimmer M

Abstract excerpt

We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood. Histochemical and biochemical analysis of skeletal muscle biopsy revealed myoadenylate deaminase deficiency; molecular genetic analysis confirmed the diagnosis of primary (inherited) myoadenylate deaminase deficiency. Plasma, urine, and muscle...

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Identifiers

PMID: 9308979
DOI: 10.1016/s0887-8994(97)00076-3

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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