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Cardiac Laminopathy (CLAM), a fatal heritable condition, has been described in the Nova Scotia Duck Tolling Retriever.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 7 |
| Mutation | c.1726delG |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | CLAM; DCM |
Información específica de la prueba
Cardiac Laminopathy (CLAM), a fatal heritable condition, has been described in the Nova Scotia Duck Tolling Retriever. This variant is caused by a recessive mutation to the gene LMNA. CLAM can result in Dilated Cardiomyopathy (DCM), which is a disorder characterised by enlargement of the heart (especially of the left ventricle), poor myocardial contractility, and congestive heart failure.
Características clínicas
Los perros afectados pueden desarrollar DCM durante el primer año de vida. Los síntomas de la MCD pueden incluir falta de apetito, letargo y ritmo cardíaco irregular o anormal. Los perros afectados pueden morir de insuficiencia cardíaca repentina.
Información adicional
Referencias
Pubmed ID: 37925523
Year published: 2023
Omia ID: 2796
Omia variant ID: