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OMIA:001759-9689 : Hypokalaemic periodic paralysis in Panthera leo

In other species: domestic cat

Categories: Muscle phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601844 (gene) , 614491 (trait)

Links to MONDO diseases: No links.

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".

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:001759-9689: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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.

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  • Created by Frank Nicholas on 20 Feb 2022