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GENATLAS PHENOTYPE
last update : 28-12-2016
Symbol CMH7
Location 19q13.42
Name cardiomyopathy familial, hypertrophic, 7
Corresponding gene TNNI3
Other symbol(s) TNNI3
Main clinical features late-onset hypertrophic cardiomyopathy, with abnormal force development and relaxation, likely resulting in diastolic dysfunction and hypertrophy could arise as a compensatory mechanism
Genetic determination autosomal dominant
Related entries including restrictive familial cardiomyopathy
Function/system disorder cardiovascular
neuromuscular
Type disease
Gene product
Name troponin I, cardiac muscle (TNNI3)
Remark(s)
  • Ala161Asp mutation in TNNI3 was implicated in hypertrophic cardiomyopathy accompanied by spinocerebellar atrophy (PMID: 27385602))