%604288
Table of Contents
Cytogenetic location: 2q14-q22 Genomic coordinates (GRCh38) : 2:112,200,001-147,900,000
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Jung et al. (1999) studied a German family in which 12 individuals had autosomal dominant CMD characterized by ventricular dilatation, impaired systolic function, and conduction disease.
After exclusion of the known loci for CMD in a German family segregating for the disorder, Jung et al. (1999) performed a whole-genome screen and detected linkage to 2q14-q22. A peak lod score of 3.73 at a recombination fraction of zero was found at D2S2339.
Jung, M., Poepping, I., Perrot, A., Ellmer, A. E., Wienker, T. F., Dietz, R., Reis, A., Osterziel, K. J. Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22. Am. J. Hum. Genet. 65: 1068-1077, 1999. [PubMed: 10486326, images, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 154; DO: 0110429;
Cytogenetic location: 2q14-q22 Genomic coordinates (GRCh38) : 2:112,200,001-147,900,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 2q14-q22 | Cardiomyopathy, dilated, 1H | 604288 | 2 |
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Jung et al. (1999) studied a German family in which 12 individuals had autosomal dominant CMD characterized by ventricular dilatation, impaired systolic function, and conduction disease.
After exclusion of the known loci for CMD in a German family segregating for the disorder, Jung et al. (1999) performed a whole-genome screen and detected linkage to 2q14-q22. A peak lod score of 3.73 at a recombination fraction of zero was found at D2S2339.
Jung, M., Poepping, I., Perrot, A., Ellmer, A. E., Wienker, T. F., Dietz, R., Reis, A., Osterziel, K. J. Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22. Am. J. Hum. Genet. 65: 1068-1077, 1999. [PubMed: 10486326] [Full Text: https://doi.org/10.1086/302580]
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