Article
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat.
Orphanet journal of rare diseases - 27 Feb 2021
Meurs Kathryn M, Williams Brian G, DeProspero Dylan, Friedenberg Steven G, Malarkey David E, Ezzell J Ashley, Keene Bruce W, Adin Darcy B, DeFrancesco Teresa C, Tou Sandra
Abstract excerpt
BACKGROUND: Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutations in the ALMS1 gene are associated with the development of Alstrom syndrome, a multisystem familial disease that can include cardiomyopathy (dilated, restrictive). Hypertrophic cardiomyopathy has...
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