Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases
Journal: bioRxiv (Cold Spring Harbor Laboratory)
Year: 2018

Abstract Purpose Limb Girdle Muscular Dystrophies (LGMD) are a genetically heterogeneous category of autosomal inherited muscle diseases. Many genes causing LGMD have been identified, and clinical trials are beginning for treatment of some genetic subtypes. However, even with the gene-level mechanisms known, it is still difficult to get a reliable and generalizable prevalence estimation for each subtype due to the limited amount of epidemiology data and the low incidence of LGMDs. Methods Taking