The detail information of Neuroaxonal dystrophy, MFN2-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: 2011
Species-specific name: Fetal-onset neuroaxonal dystrophy
Species-specific symbol: FNAD
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| MFN2 | mitofusin 2 | Canis lupus familiaris | Chr2 : 84971271 - 84945233 | 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.
| 2011 |
Fyfe,J.C.,Al-Tamimi,R.A.,Liu,J.,Schäffer,A.A.,Agarwala,R.,Henthorn,P.S.: :
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 12:223-32, 2011. Pubmed reference: 21643798 . DOI: 10.1007/s10048-011-0285-6 . |
| 2010 |
Fyfe,JC.,Al-Tamimi,RA.,Castellani,RJ.,Rosenstein,D.,Goldowitz,D.,Henthorn,PS.: :
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. J Comp Neurol 518:3771-84, 2010. Pubmed reference: 20653033 . DOI: 10.1002/cne.22423 . |