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Titolo:
Molecular analysis of Spanish patients with AMP deaminase deficiency
Autore:
Rubio, JC; Martin, MA; Del Hoyo, P; Bautista, J; Campos, Y; Segura, D; Navarro, C; Ricoy, JR; Cabello, A; Arenas, J;
Indirizzi:
Hosp Univ 12 Octubre, Ctr Invest, Madrid 28041, Spain Hosp Univ 12 Octubre Madrid Spain 28041 Ctr Invest, Madrid 28041, Spain Hosp Univ 12 Octubre, Dept Pathol, Madrid, Spain Hosp Univ 12 Octubre Madrid Spain 2 Octubre, Dept Pathol, Madrid, Spain Hosp Univ Virgen Rocio, Dept Neurol, Seville, Spain Hosp Univ Virgen Rocio Seville Spain Rocio, Dept Neurol, Seville, Spain Hosp Univ Virgen Rocio, Dept Pathol, Seville, Spain Hosp Univ Virgen Rocio Seville Spain Rocio, Dept Pathol, Seville, Spain Hosp Mixoeiro, Dept Pathol, Vigo, Spain Hosp Mixoeiro Vigo SpainHosp Mixoeiro, Dept Pathol, Vigo, Spain
Titolo Testata:
MUSCLE & NERVE
fascicolo: 8, volume: 23, anno: 2000,
pagine: 1175 - 1178
SICI:
0148-639X(200008)23:8<1175:MAOSPW>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
MUSCLE; MYOPHOSPHORYLASE; MUTATIONS; CHILD;
Keywords:
AMP deaminase; exercise intolerance; McArdle's disease; mitochondrial myopathy; myophosphorylase;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
13
Recensione:
Indirizzi per estratti:
Indirizzo: Arenas, J Hosp Univ 12 Octubre, Ctr Invest, Ave Cordoba Km 5-4, Madrid 28041, Spain Hosp Univ 12 Octubre Ave Cordoba Km 5-4 Madrid Spain 28041 pain
Citazione:
J.C. Rubio et al., "Molecular analysis of Spanish patients with AMP deaminase deficiency", MUSCLE NERV, 23(8), 2000, pp. 1175-1178

Abstract

We found six patients with AMPD deficiency in muscle who were homozygous for the most common mutation, Q12X in the AMPD gene (AMPD I), associated with this disease. Th ree 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 McArdie'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. (C) 2000 John Wiley & Sons, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/04/20 alle ore 15:36:53