Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
OMIM:613076Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | GFER |
|---|---|
| Reference transcript | NM_005262.2 |
| DNA Change | c.581G>A |
| A.A. Change | p.Arg194His |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP.The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May;84(5):594-604. |