Ontology highlight
ABSTRACT:
SUBMITTER: Couthouis J
PROVIDER: S-EPMC4013999 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Couthouis Julien J Raphael Alya R AR Siskind Carly C Findlay Andrew R AR Buenrostro Jason D JD Greenleaf William J WJ Vogel Hannes H Day John W JW Flanigan Kevin M KM Gitler Aaron D AD
Neuromuscular disorders : NMD 20140210 5
Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the "limb-girdle" muscles), although it is a heterogeneous disorder that can present with varying symptoms. There is currently no cure. We sought to identify the genetic basis of limb-girdle muscular dystrophy type 1 in an American family of Northern European descent using exome sequencing. Exome sequencing was performed on DNA samples from two affected siblings and one unaffected sibling and resulted in the ...[more]