Article
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
Clinical genetics - 1 Dec 2015
Chardon Jodi Warman, Smith A C, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang Lijia, Schwartzentruber J, Hawkins C, Harms M B, Dojeiji S, Zhang M, Majewski J, Bulman D E, Boycott K M, Dyment D A
Abstract excerpt
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders leading to progressive muscle degeneration and often associated with cardiac complications. We present two adult siblings with childhood-onset of weakness progressing to a severe quadriparesis with the additional features of triangular tongues and biventricular cardiac dysfunction. Whole exome sequencing identified compound...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.