Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
OMIM:302800Mode of inheritance:X-linked dominant
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | GJB1 |
|---|---|
| Reference transcript | NM_000166.5 |
| DNA Change | c.439delG |
| A.A. Change | p.Ala147ProfsX49 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Meggouh F, Benomar A, Rouger H, Tardieu S, Birouk N, Tassin J, Barhoumi C, Yahyaoui M, Chkili T, Brice A, LeGuern E.The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. J Med Genet. 1998 Mar;35(3):251-2. |