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Article

Molecular analysis of Spanish patients with AMP deaminase deficiency.

Muscle & nerve - 1 Aug 2000

Rubio J C, Martín M A, Del Hoyo P, Bautista J, Campos Y, Segura D, Navarro C, Ricoy J R, Cabello A, Arenas J

Abstract excerpt

We found six patients with AMPD deficiency in muscle who were homozygous for the most common mutation, Q12X in the AMPD gene (AMPD1), associated with this disease. Three patients had AMPD deficiency alone, showing a mild clinical phenotype. Two patients showed a defect of PPL in muscle, and were homozygous for the most common mutation associated with McArdle's disease, R49X in the muscle PPL gene (PYGM). In one...

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Source

Identifiers

PMID: 10918252
DOI: 10.1002/1097-4598(200008)23:8<1175::aid-mus3>3.0.co;2-m

Genes

PPL
AMPD1
PYGM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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