Table 1 Mutations identified with LGMD-2 diagnostic test kit
From: Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
Name | Gene | Mutation | Frequency in Control group | Frequency in the group of patients with NMD | Known mutation frequency |
|---|---|---|---|---|---|
CAPN3_00010 (rs80338800) | CAPN3 | c.550delA | 0 (0.001a) | 0.13 | NA |
CAPN3_00119 | CAPN3 | c.2288A>C | 0.003 | 0 | NA |
DYSF_00178 | DYSF | c.4872delG | 0.003 | 0 | NA |
rs2287717 | FKRP | c.135C>T | 0.003 | 0 | 0.14 |