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Mutations in the cardiac myosin binding protein–C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

✍ Scribed by Watkins, Hugh; Conner, David; Thierfelder, Ludwig; Jarcho, John A.; MacRae, Calum; McKenna, William J.; Maron, Barry J.; Seidman, J.G.; Seidman, Christine E.


Book ID
109918890
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
468 KB
Volume
11
Category
Article
ISSN
1061-4036

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Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. Fourteen sarcomeric and sarcomere-related genes have been implicated in HCM etiology, those encoding β-myosin heavy chain (__MYH7__) and cardiac myosin binding protein C (__MYBPC3__) reported as the most frequently mutated