Neuropathy, hereditary motor and sensory, type VIB
OMIM:616505Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | SLC25A46 |
|---|---|
| Reference transcript | NM_138773.3 |
| DNA Change | c.283+3G>T |
| A.A. Change | |
| Exon/Intron | intron 1 |
| Mutation Type | substitution |
| Reference | Nguyen M, Boesten I, Hellebrekers D, Mulder-den Hartog NM, de Coo I, Smeets H, Gerards M.
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder. Clin Genet. 2016 Mar 8. doi: 10.1111/cge.12774. [Epub ahead of print] |