Cardiomyopathy, dilated, 1A
| Disorder | |
|---|---|
| OMIM #: | #115200 (Click to access OMIM database) |
| Disorder: | Cardiomyopathy, dilated, 1A |
| Also known as: | CMD1A CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 CDCD1, CARDIOMYOPATHY, IDIOPATHIC DILATED, CARDIOMYOPATHY, FAMILIAL IDIOPATHIC, CARDIOMYOPATHY, CONGESTIVE |
| Clinical | |
| Phenotype: | dilated cardiomyopathy, atrial fibrillation, arrhythmia, heart failure, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | LMNA |
| Base Change: | C>T, at nucleotide 568 |
| Amino Acid Change: | arg 190 --> trp |
| 2 Amish | |
| Gene: | LMNA |
| Base Change: | C>T, at nucleotide 232 |
| Amino Acid Change: | arg 78 --> trp |
| Last updated: | 2023-02-01 |
| References |
|---|
| Lynch MT, Maloney KA, Pollin TI, Streeten EA, Xu H; Regeneron Genetics Center, Shuldiner AR, Van Hout CV, Gonzaga-Jauregui C, Mitchell BD. (2021) The burden of pathogenic variants in clinically actionable genes in a founder population. Am J Med Genet A Aug 31. doi: 10.1002/ajmg.a.62472. PubMed ID: 34467620 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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