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Burmese Hypokalemia (BHK) is a disorder associated with a mutation in the WNK4 gene, causing a subnormal serum potassium ion concentration and related clinical symptoms.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | E1 |
| Mutation | c.2899C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | BHP; HPP |
Informations générales
Burmese Hypokalemia (BHK) is a disorder associated with a mutation in the WNK4 gene, causing a subnormal serum potassium ion concentration and related clinical symptoms. The disorder is recessive and also known as Burmese hypokalaemic periodic polymyopathy (BHP) or Feline Hypokalaemic Periodic Paralysis.
Caractéristiques cliniques
Symptoms for affected cats are generalized or sometimes localized skeletal muscle weakness, frequently episodic in nature.
Additional Information
Références
Pubmed ID: 23285264
Year published: 2012
Omia ID: 1759
Omia variant ID: 312