| Phenotype: | Muscular dystrophy, limb-girdle, type 2E |
|---|---|
| Dna Change: | 376_383dup |
| Protein Change: | |
| Mutation Type: | Duplication |
| Mutation Effect: | Frameshift |
| Location: | |
| Transcript: | NM_000232.4 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Italy | NA | Northern Italy | 3 families/5 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 |
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