Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy

Journal of Medical Genetics

Volumn 36, Issue 7, 1999, Pages 542-545

  Richards, Pascale ^a   Isnard, Richard ^a   Carrier, Lucie ^a   Dubourg, Olivier ^b   Donatien, Yves ^c   Mathieu, Bénédicte ^a   Bonne, Gisèle ^a   Gary, Françoise ^d   Charron, Philippe ^a   Hagege, Albert ^e   Komajda, Michel ^a   Schwartz, Ketty ^a   Hainque, Bernard ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c CENTRE HOSPITALIER UNIVERSITAIRE DE FORT DE FRANCE   (France)

^d GÉNÉTHON   (France)

^e Hopital Boucicaut   (France)

Author keywords

myosin heavy chain gene; Cardiac myosin binding protein C gene; Genetics; Hypertrophic cardiomyopathy

Indexed keywords

BINDING PROTEIN; MICROSATELLITE DNA; MYOSIN HEAVY CHAIN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; HAPLOTYPE; HEART LEFT VENTRICLE HYPERTROPHY; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ADULT; AGED; AGED, 80 AND OVER; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; FEMALE; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOCARDIUM; MYOSINS; PEDIGREE; PHENOTYPE;

EID: 0033005768     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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