Article
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
Neuromuscular disorders : NMD - 1 Aug 2002
Gross M, Rötzer E, Kölle P, Mortier W, Reichmann H, Goebel H H, Lochmüller H, Pongratz D, Mahnke-Zizelman D K, Sabina R L
Abstract excerpt
Myoadenylate deaminase deficiency is the most common metabolic disorder of skeletal muscle in the Caucasian population, affecting approximately 2% of all individuals. Although most deficient subjects are asymptomatic, some suffer from exercise-induced myalgia suggesting a causal relationship between a lack of enzyme activity and muscle function. In addition, carriers of this derangement in purine nucleotide...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.