Muscular dystrophy, limb-girdle, type 2C
OMIM:253700Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | SGCG |
|---|---|
| Reference transcript | NM_000231.2 |
| DNA Change | c.525delT |
| A.A. Change | p.Phe175LeufsX20 |
| Exon/Intron | exon 6 |
| Mutation Type | deletion |
| Reference | EL KERCH F, SBITI A, AZIBI K, LETURCQ F.The gamma-sarcoglycanopathy by mutation del 521T in Morocco. About 20 cases Revue maghrebine de pediatrie. 2001 ;11(4)189-193 |
| Gene Symbol | SGCG |
|---|---|
| Reference transcript | NM_000231.2 |
| DNA Change | c.93G>A |
| A.A. Change | p.Trp31Stop |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC.Novel mutations in three patients with LGMD2C with phenotypic differences. Pediatr Neurol. 2004 Apr;30(4):291-4. |
| Gene Symbol | SGCG |
|---|---|
| Reference transcript | NM_000231.2 |
| DNA Change | c.525delT |
| A.A. Change | p.Phe175LeufsX20 |
| Exon/Intron | exon 6 |
| Mutation Type | deletion |
| Reference | El Kerch F, Ratbi I, Sbiti A, Laarabi FZ, Barkat A, Sefiani A.Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population. Genet Test Mol Biomarkers. 2014 Apr;18(4):253-6. |