Charcot-Marie-Tooth Disease Type 4B2
OMIM:604563Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | SBF2 |
|---|---|
| Reference transcript | NM_030962.3 |
| DNA Change | c.2875C>T |
| A.A. Change | p.Gln959X |
| Exon/Intron | exon 23 |
| Mutation Type | substitution |
| Reference | Azzedine H, Bolino A, Ta?eb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 2003 May;72(5):1141-53. |