Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy: Familial restrictive cardiomyopathy

Clinical Genetics

Volumn 59, Issue 4, 2001, Pages 248-256

  Zhang, J ^a   Kumar, A ^b   Stalker, H J ^a   Virdi, G ^a   Ferrans, V J ^c   Horiba, K ^c   Fricker, F J ^a   Wallace, M R ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b Children's Heart Center   (United States)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

Autosomal dominant; CRYAB; Desmin; Desminopathy; Genetic; Linkage analysis; Polymorphism; Restrictive cardiomyopathy

Indexed keywords

ALPHA CRYSTALLIN; DESMIN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CONTROLLED STUDY; DIASTOLE; DISEASE COURSE; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; HEART FAILURE; HEART FUNCTION; HEART MUSCLE CELL; HUMAN; HUMAN TISSUE; IDIOPATHIC DISEASE; MALE; MEDICAL LITERATURE; MOLECULAR BIOLOGY; MYOPATHY; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; RESTRICTIVE CARDIOMYOPATHY; SKELETAL MUSCLE; SYMPTOM; SYSTOLE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BIOPSY; BLOTTING, NORTHERN; CARDIOMYOPATHY, RESTRICTIVE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CRYSTALLINS; DESMIN; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENOTYPE; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0035044156     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590406.x     Document Type: Article

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