Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

Circulation

Volumn 107, Issue 17, 2003, Pages 2227-2232

  Richard, Pascale ^a   Charron, Philippe ^a   Carrier, Lucie ^a   Ledeuil, Céline ^a   Cheav, Theary ^a   Pichereau, Claire ^a   Benaiche, Abdelaziz ^a   Isnard, Richard ^a   Dubourg, Olivier ^b   Burban, Marc ^c   Gueffet, Jean Pierre ^c   Millaire, Alain ^d   Desnos, Michel ^e   Schwartz, Ketty ^a   Hainque, Bernard ^a   Komajda, Michel ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c Service De Cardiologie   (France)

^d Service de Cardiologie   (France)

^e HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Cardiomyopathy; Genetics; Hypertrophy; Prognosis

Indexed keywords

MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN;

ACTC GENE; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL PRACTICE; DISEASE SEVERITY; EVALUATION; FAMILIAL DISEASE; FEMALE; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; GENETIC IDENTIFICATION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MYBPC GENE; MYH7 GENE; MYL2 GENE; MYL3 GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; TNNC1 GENE; TNNI3 GENE; TNNT2 GENE; TPM1 GENE;

CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CARRIER PROTEINS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; MYOSIN HEAVY CHAINS; PROGNOSIS;

EID: 0037630018     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.0000066323.15244.54     Document Type: Article

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