Article
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
PloS one - 1 Jan 2012
McDonald Kristin K, Stajich Jeffrey, Blach Colette, Ashley-Koch Allison E, Hauser Michael A
Abstract excerpt
The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes for skeletal and cardiac muscle disease) precludes exhaustive clinical testing, prioritizing sequencing of specific genes is difficult due to the similarity of clinical presentation, and the number of variants returned through exome sequencing can make the identification of the disease-causing variant difficult....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.