Charcot-Marie-Tooth Disease Type 4A
OMIM:214400Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | GDAP1 |
|---|---|
| Reference transcript | NM_018972.2 |
| DNA Change | c.233C>T |
| A.A. Change | p.Pro78Leu |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Bouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M.A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families. Can J Neurol Sci. 2007 Nov;34(4):421-6. |
| Gene Symbol | GDAP1 |
|---|---|
| Reference transcript | NM_018972.2 |
| DNA Change | c.929G>A |
| A.A. Change | p.Arg310Gln |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Azzedine H, Ruberg M, Ente D, Gilardeau C, Perie S, Wechsler B, Brice A, LeGuern E, Dubourg O.Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul Disord. 2003 May;13(4):341-6. |
| Gene Symbol | GDAP1 |
|---|---|
| Reference transcript | NM_018972.2 |
| DNA Change | c.581C>G |
| A.A. Change | p.Ser194X |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Azzedine H, Ruberg M, Ente D, Gilardeau C, Perie S, Wechsler B, Brice A, LeGuern E, Dubourg O.Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul Disord. 2003 May;13(4):341-6. |