OMIA 001759-9689 : Hypokalaemic periodic paralysis in Panthera leo
In other species: domestic cat Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601844 (gene) , 614491 (trait) Mendelian trait/disorder: unknown Considered a defect: yes Species-specific name: Polymyopathy Molecular basis: Dalton et al. (2022) "sequenced all 19 exons of the gene in one case, and two control samples, to identify possible mutations [in the comparative candidate gene WNK4] that may be associated with polymyopathy in free-ranging lions. Here, no mutations were detected in any of the exons sequenced. Our findings indicate that the WNK4 gene is not a major contributor to the condition in these lions." Clinical features: Dalton et al. (2022): "Polyphasic skeletal muscle degeneration, necrosis and mineralization of skeletal muscle".
|2022||Dalton, D.L., Pretorius, C., de Klerk-Lorist, L.M., Reininghaus, B., Buss, P., Mitchell, E.P. :|
|Absence of 2899C<T Mutation in the WNK4 Gene in a Free-Ranging Lion (<i>Panthera leo</i>) with Polymyopathy. Animals (Basel) 12:, 2022. Pubmed reference: 35158718. DOI: 10.3390/ani12030389.|
- Created by Frank Nicholas on 20 Feb 2022