Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy.

ABSTRACT: A-type lamins gene (LMNA) mutations cause an autosomal dominant inherited form of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is characterized by slowly progressive muscle weakness and wasting and dilated cardiomyopathy, often leading to heart failure-related disability. EDMD is highly penetrant with poor prognosis and there is currently no specific therapy available. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. Genetic background is a well-known factor that significantly affects phenotype in several mouse models of human diseases. This phenotypic variability is attributed, at least in part, to genetic modifiers that regulate the disease process. To characterize the phenotype of A-type lamins

SUBMITTER: Vignier N 

PROVIDER: S-EPMC6630059 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature