Article
Mutation analysis in myophosphorylase deficiency (McArdle's disease).
Annals of neurology - 1 Mar 1998
Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin J P, Kilimann M W
Abstract excerpt
Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical clinical presentation of myophosphorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophosphorylase gene. Four patients were homozygous for a nonsense mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.