Ullrich congenital muscular dystrophy 1
OMIM:254090Mode of inheritance:Multiple
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | COL6A3 |
|---|---|
| DNA Change | IVS29+5G>A |
| A.A. Change | in-frame deletion of 17 amino acids |
| Exon/Intron | intron 29 |
| Mutation Type | substitution |
| Reference | Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet. 2002 Jun;70(6):1446-58. |
Variant not named according to HGVS recommendations