Myotonia congenita, recessive
OMIM:255700Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | CLCN1 |
|---|---|
| Reference transcript | NM_000083.2 |
| DNA Change | c.1444G>A |
| A.A. Change | p.Gly482Arg |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | Ratbi I, Elalaoui SC, Escudero A, Kriouile Y, Molano J, Sefiani A.Moroccan consanguineous family with Becker myotonia and review. Ann Indian Acad Neurol. 2011 Oct;14(4):307-9. |