Genetic characteristics of myoadenylate deaminase deficiency.
Ann Neurol
; 44(1): 140-3, 1998 Jul.
Article
em En
| MEDLINE
| ID: mdl-9667605
ABSTRACT
Two types of myoadenylate deaminase (MAD) deficiency have been described, primary or inherited, and secondary or acquired MAD deficiency. In this study, we investigated whether secondary MAD deficiency is indeed acquired or merely coincidental. We demonstrated the same underlying molecular defect, a C34T transition, in both types of deficiency. Furthermore, the same frequency of the mutant MAD allele was found in the general population as in patients with neuromuscular complaints. We therefore conclude that in the Dutch population, secondary MAD deficiency is merely a "coincidental" finding, and that MAD deficiency is a harmless genetic variant.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação Puntual
/
AMP Desaminase
/
Doenças Neuromusculares
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
1998
Tipo de documento:
Article