FKRP
Gene name: fukutin related proteinOMIM ID: 606596
Chromosome location: 19q13.32
Mutations
| Disease/Phenotype | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 |
|---|---|
| Reference transcript | NM_001039885.2 |
| DNA Change | c.1364C>A |
| A.A. Change | p.Ala455Asp |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Trovato R, Astrea G, Bartalena L, Ghirri P, Baldacci J, Giampietri M, Battini R, Santorelli FM, Fiorillo C.Elevated Serum Creatine Kinase and Small Cerebellum Prompt Diagnosis of Congenital Muscular Dystrophy due to FKRP Mutations. J Child Neurol. 2013 Feb 17. [Epub ahead of print] |