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Genetic characteristics of myoadenylate deaminase deficiency
Author(s) -
Verzijl H. T. F. M.,
van Engelen B. G. M.,
Luyten J. A. F. M.,
Steenbergen G. C. H.,
van den Heuvel L. P. W. J.,
ter Laak H. J.,
Padberg G. W.,
Wevers R. A.
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410440124
Subject(s) - allele , population , genetics , amp deaminase , allele frequency , biology , medicine , endocrinology , gene , adenosine deaminase , environmental health , adenosine
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.