SGCG
Gene name: sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)OMIM ID: 608896
Chromosome location: 13q12.12
Mutations
| Disease/Phenotype | Muscular dystrophy, limb-girdle, type 2C |
|---|---|
| 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 |
| Disease/Phenotype | Muscular dystrophy, limb-girdle, type 2C |
|---|---|
| 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. |
| Disease/Phenotype | Muscular dystrophy, limb-girdle, type 2C |
|---|---|
| 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. |