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Molecular analysis of Spanish patients with AMP deaminase deficiency
Author(s) -
Rubio Juan C.,
Martín Miguel A.,
Del Hoyo Pilar,
Bautista Juan,
Campos Yolanda,
Segura Dolores,
Navarro Carmen,
Ricoy Jose R.,
Cabello Ana,
Arenas Joaquin
Publication year - 2000
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/1097-4598(200008)23:8<1175::aid-mus3>3.0.co;2-m
Subject(s) - amp deaminase , mutation , phenotype , medicine , genetics , clinical phenotype , disease , endocrinology , gene , biology , gastroenterology , adenosine deaminase , adenosine
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 of these patients, the clinical phenotype was more severe than usually seen in patients with McArdle's disease. The remaining patient harbored the mtDNA A3243G mutation, showing one of the usual clinical patterns associated with this mutation. We conclude that the Q12X mutation in AMPD1 may result in a mild clinical effect; that it is frequent in the Spanish population, and therefore frequently associated with other metabolic diseases; and that the effect of the association of AMPD and PPL deficiencies seems to be neutral. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 1175–1178, 2000