Article
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.
Annals of human genetics - 1 May 2009
Duno Morten, Quinlivan Ros, Vissing John, Schwartz Marianne
Abstract excerpt
Mutations in PYGM, encoding the muscle-specific glycogen phosphorylase (myophosphorylase), are responsible for McArdle disease. Among Caucasians, a large proportion of patients are homozygous for the R50X mutation, but other mutations can affect all the 20 exons of PYGM, making mutation detection laborious. We have developed a high-resolution melting (HRM) assay for mutation detection in PYGM. Twelve McArdle...
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