Hypertrophic cardiomyopathy: Two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy

Biochemical and Biophysical Research Communications

Volumn 309, Issue 2, 2003, Pages 391-398

  Nanni, Luisa ^a,c   Pieroni, Maurizio ^b,c   Chimenti, Cristina ^b,c   Simionati, Barbara ^a   Zimbello, Rosanna ^a   Maseri, Attilio ^c   Frustaci, Andrea ^b   Lanfranchi, Gerolamo ^a,c  

^a UNIVERSITY OF PADOVA   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

Compound heterozygous; Dilated cardiomyopathy; Homozygous mutation; Hypertrophic cardiomyopathy; Mutation detection; Myosin heavy chain 7; Myosin binding protein C; Troponin T2

Indexed keywords

CONNECTIN; MYOSIN; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN; TROPONIN T;

ADULT; AGED; ARTICLE; BINDING SITE; CLINICAL ARTICLE; DISEASE COURSE; FEMALE; GENE MUTATION; HEART DILATATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MUTATIONAL ANALYSIS; PHENOTYPE;

EID: 0041923834     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2003.08.014     Document Type: Article

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