Charcot-Marie-Tooth Disease Type 4C
OMIM:601596Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | SH3TC2 |
|---|---|
| DNA Change | IVS10-1G>A |
| A.A. Change | Exon skipping |
| Exon/Intron | intron 10 |
| Mutation Type | substitution |
| Reference | Azzedine H, Ravis? N, Verny C, Gabr?els-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E.Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology. 2006 Aug 22;67(4):602-6. |
Variant not named according to HGVS recommendations