The detail information of Cardiomyopathy, dilated, PLN-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: -
Considered a defect: yes
Year key mutation first reported: 2019
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| PLN | phospholamban | Canis lupus familiaris | Chr1 : 58763549 - 58775010 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2019 |
Yost,O.,Friedenberg,S.G.,Jesty,S.A.,Olby,N.J.,Meurs,K.M.: :
The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model. Gene 697:118-122, 2019. Pubmed reference: 30794913 . DOI: 10.1016/j.gene.2019.02.022 . |