Article
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
Annals of neurology - 1 Mar 2012
Harms Matthew B, Sommerville R Brian, Allred Peggy, Bell Shaughn, Ma Duanduan, Cooper Paul, Lopate Glenn, Pestronk Alan, Weihl Conrad C, Baloh Robert H
Abstract excerpt
OBJECTIVE: To identify the causative gene in an autosomal dominant limb-girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles. METHODS: Exome sequencing was used to identify candidate mutations in the studied pedigree. Genome-wide linkage was then used to narrow the list of candidates to a single disease-associated mutation. Additional pedigrees with dominant or sporadic myopathy were screened for...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Arginine
- Exome
- Female
- Genes, Dominant
- Genome-Wide Association Study
- HSP40 Heat-Shock Proteins
- Humans
- Male
- Middle Aged
- Molecular Chaperones
- Molecular Sequence Data