Mutation Database

Details of the mutations identified (following linkage mapping/whole exome sequencing and co-segregation studies) in the rare disease families we have been investigating can be found below. Please note this is a work in progress and we are still updating this.

DCM = Dilated cardiomyopathy; CM = cardiomyopathy; LGMD = limb girdle muscular dystrophy; CMD = congenital muscular dystrophy; PMID = PubMed ID for papers where we have reported the variant and clinical details.