| Phenotype: | Muscular dystrophy, limb-girdle, type 2C |
|---|---|
| Dna Change: | 87insT |
| Protein Change: | |
| Mutation Type: | Insertion |
| Mutation Effect: | Frameshift |
| Location: | |
| Transcript: | NM_000231.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Italy | NA | Northern Italy | 3 patients/4 families | NA | Fanin M et al., 2000Fanin M, Hoffman EP, Angelini C, Pegoraro E, . Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy.. Hum. Mutat.. 2000; 16(1):13-7 |
| Phenotype: | Muscular dystrophy, limb-girdle, type 2C |
|---|---|
| Dna Change: | c.848G>A |
| Protein Change: | p.Cys283Tyr |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 8 |
| Transcript: | NM_000231.2 |
| Phenotype: | Muscular dystrophy, limb-girdle, type 2C |
|---|---|
| Dna Change: | c.525delT |
| Protein Change: | p.Phe175LeufsX20 |
| Mutation Type: | Deletion |
| Mutation Effect: | Frameshift |
| Location: | exon 6 |
| Transcript: | NM_000231.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Morocco | NA | NA | 1/250 (carrier frequency) | NA | El Kerch F et al., 2014El 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; 18(4):253-6 |
| Tunisia | NA | NA | 132 patients/28 families | NA | Kefi M et al., 2003Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F, . Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.. Neuromuscul. Disord.. 2003; 13(10):779-87 |
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; 18(4):253-6
Fanin M, Hoffman EP, Angelini C, Pegoraro E, Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy.Hum. Mutat.. 2000; 16(1):13-7
Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F, Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.Neuromuscul. Disord.. 2003; 13(10):779-87
Lasa A, Piccolo F, de Diego C, Jeanpierre M, Colomer J, Rodríguez MJ, Urtizberea JA, Baiget M, Kaplan J, Gallano P, Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.Eur. J. Hum. Genet.. 1998; 6(4):396-9
Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC, A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.Hum. Mol. Genet.. 1996; 5(12):2019-22
Spengos K, Walter MC, Dekomien G, Papadopoulos K, Lochmüller H, Manta P, C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.Eur. J. Neurol.. 2010; 17(6):e41-2