Charcot-Marie-Tooth Disease, Axonal, Type 2B1
OMIM:605588Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | LMNA |
|---|---|
| Reference transcript | NM_170707.3 |
| DNA Change | c.892C>T |
| A.A. Change | p.Arg298Cys |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. Brain. 2007 Apr;130(Pt 4):1062-75. |