Genetic characteristics of myoadenylate deaminase deficiency.
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.
Verzijl
H T
HT
Department of Neurology, University Hospital Nijmegen, The Netherlands.
van Engelen
B G
BG
Luyten
J A
JA
Steenbergen
G C
GC
van den Heuvel
L P
LP
ter Laak
H J
HJ
Padberg
G W
GW
Wevers
R A
RA
D000659:AMP Deaminase / Q000172:deficiency* / Q000235:genetics*; D001483:Base Sequence; D001706:Biopsy; D016009:Chi-Square Distribution; D004247:DNA / Q000032:analysis; D005080:Exercise Test; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D004247:DNA; D000659:AMP Deaminase