Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

Human Molecular Genetics

Volumn 10, Issue 3, 2001, Pages 189-194

  Tiso, Natascia ^a   Stephan, Dietrich A ^b   Nava, Andrea ^a   Bagattin, Alessia ^a   Devaney, Joseph M ^b,c   Stanchi, Fabio ^a   Larderet, Gaelle ^a   Brahmbhatt, Bhoomi ^b   Brown, Kevin ^b   Bauce, Barbara ^a   Muriago, Michela ^a   Basso, Cristina ^a   Thiene, Gaetano ^a   Danieli, Gian Antonio ^a   Rampazzo, Alessandra ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c TRANSGENOMIC INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTININ; ACTININ 2; CALCIUM ION; ENTACTIN; HEART RECEPTOR; RYANODINE RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM TRANSPORT; CARDIOMYOPATHY; CENTRONUCLEAR MYOPATHY; CHILDHOOD DISEASE; CHROMOSOME 1Q; CONTROLLED STUDY; CYTOSOL; EARLY DIAGNOSIS; FAMILIAL DISEASE; FEMALE; GENE CLUSTER; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC CONSERVATION; HEART MUSCLE; HEART MUSCLE CELL; HEART RIGHT VENTRICLE; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MALE; MALIGNANT HYPERTHEMIA; MUSCLE ATROPHY; MUSCLE SPINDLE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECEPTOR GENE; SARCOPLASMIC RETICULUM; SKELETAL MUSCLE; SUDDEN DEATH; SYMPTOM;

EID: 0035253502     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.3.189     Document Type: Article

References (20)

1. Arrhythmogenic right ventricular cardiomyopathy-a still underrecognized clinic entity
2. Screening for hypertrophic cardiomyopathy in young athletes
3. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24
4. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43
5. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14
6. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm
7. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23
8. The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14
9. Juvenile sudden death and effort induced ventricular tachycardias in a family with right ventricular cardiomyopathy
10. Familial effort polymorphic ventricular arrhythmias in arrythmogenic right ventricular cardiomyopathy map to chromosome 1q42-q43
11. Stabilization of Calcium release channel (ryanodine receptor) function by FK506-binding protein
12. Ryanodine receptor mutations in malignant hyperthermia and central core disease
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14. Postulated role of interdomain interaction with the ryanodine receptor in Ca(2+) channel regulation
15. PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): Defective regulation in failing hearts
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20. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy