Novel frameshift mutation in Troponin C (TNNC1) associated with hypertrophic cardiomyopathy and sudden death

Cardiology in the Young

Volumn 21, Issue 3, 2011, Pages 345-348

  Chung, Wendy K ^a   Kitner, Carrie ^b   Maron, Barry J ^b  

^a NewYork Presbyterian Hospital   (United States)

^b MINNEAPOLIS HEART INSTITUTE FOUNDATION   (United States)

Author keywords

dominant; Genetic; sarcomere

Indexed keywords

TROPONIN C;

ADOLESCENT; ADULT; ARTICLE; CONTROLLED STUDY; ECHOCARDIOGRAPHY; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC SCREENING; HEART VENTRICLE HYPERTROPHY; HISTOPATHOLOGY; HUMAN; MALE; MUSCLE CELL; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPE; SEQUENCE ANALYSIS; SUDDEN DEATH;

ADOLESCENT; CARDIOMYOPATHY, HYPERTROPHIC; DEATH, SUDDEN, CARDIAC; FEMALE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TROPONIN C; YOUNG ADULT;

EID: 79956056921     PISSN: 10479511     EISSN: 14671107     Source Type: Journal    
DOI: 10.1017/S1047951110001927     Document Type: Article

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