The detail information of Dyskinesia, paroxysmal, PIGN-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2016
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB228 | Soft-Coated Wheaten Terrier | 45.7-48.3 cm (male), 43.2-45.7 cm (female) | 15.9-18.1 kg (male), 13.6-15.9 kg (female) | Ireland |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| PIGN | phosphatidylinositol glycan anchor biosynthesis, class N | Canis lupus familiaris | Chr1 : 14544736 - 14652948 | 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.
| 2017 |
Stassen,Q.E.M.,Koskinen,L.L.E.,vanSteenbeek,F.G.,Seppälä,E.H.,Jokinen,T.S.,Prins,P.G.M.,Bok,H.G.J.,Zandvliet,M.M.J.M.,Vos-Loohuis,M.,Leegwater,P.A.J.,Lohi,H.: :
Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations. J Vet Intern Med 31:1123-1131, 2017. Pubmed reference: 28703446 . DOI: 10.1111/jvim.14731 . |
| 2016 |
Kolicheski,A.L.,Johnson,G.S.,Mhlanga-Mutangadura,T.,Taylor,J.F.,Schnabel,R.D.,Kinoshita,T.,Murakami,Y.,O'Brien,D.P.: :
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. Neurogenetics :, 2016. Pubmed reference: 27891564 . DOI: 10.1007/s10048-016-0502-4 . |
| 2004 |
Shelton,G.D.: :
Muscle pain, cramps and hypertonicity. Vet Clin North Am Small Anim Pract 34:1483-96, 2004. Pubmed reference: 15474685 . DOI: 10.1016/j.cvsm.2004.05.019 . |