Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
OMIM:606612Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | FKRP |
|---|---|
| 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] |