Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.

doi:10.1016/s0887-8994(97)00076-3

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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 genet...

Topics

AMP Deaminase
Adenosine Diphosphate
Adenosine Triphosphate
Adult
Biopsy
Cardiomyopathy, Hypertrophic
Carnitine
Diagnosis, Differential
Gigantism
Humans
Inosine Monophosphate
Male
Muscle, Skeletal
Phenotype
Purine-Pyrimidine Metabolism, Inborn Errors

Source

Open in PubMed

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9308979-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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