CAV3 gene sequence variations: National Genome Database and clinics.

Janis StavusisI InashkinaE JankevicsI RadovicaI MiculeJ StrautmanisM S NaudinaA UtkusB BurnyteB Lace

Published in: Acta neurologica Scandinavica (2015)

CAV3 gene encodes muscle-specific protein with dominant negative type of missense mutations in it causing various phenotypes. Our study confirmed CAV3 gene involvement in neuromuscular disorders, but found no evidence in the group of patients with cardiomyopathies. Persons included in the National Genome Database could be screened for late onset Mendelian diseases.

Keyphrases

late onset
genome wide
copy number
early onset
quality improvement
primary care
dna methylation
emergency department
autism spectrum disorder