Table 2 Mutations identified in Czech LGMD2I, 2D, 2 L, 2B, and 2E probands
From: Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
No. | Gene | Mutation (cDNA level) | Mutation (protein level) |
|---|---|---|---|
72 - 78 | FKRP | c.826C > A/c.826C > A | p.(Leu276Ile)/p.(Leu276Ile) |
79 | FKRP | c.826C > A/c.947C > G | p.(Leu276Ile)/p.(Pro316Arg) |
80 | FKRP | c.826C > A/c.1076G > C | p.(Leu276Ile)/p.(Trp359Ser) |
81 | SGCA | c.229C > T/c.229C > T | p.(Arg77Cys)/p.(Arg77Cys) |
82, 83 | SGCA | c.157 + 1G > A/c.850C > T | splicing/p.(Arg284Cys) |
84 | SGCA | c.229C > T/c.739G > A | p.(Arg77Cys)/p.(Val247Met) |
85 | SGCA | c.290A > G/c.303dupA | p.(Asp97Gly)/p.(Gln101Glnfs*4) |
86 | SGCA | c.229C > T/c.308 T > C | p.(Arg77Cys)/p .(Ile103Thr) |
87 | ANO5 | c.191dupA/c.966A > T | p.(Asn64Lysfs*15)/p.(Leu322Phe) |
88, 89 | ANO5 | c.191dupA/c.2272C > T | p.(Asn64Lysfs*15)/p.(Arg758Cys) |
90 | DYSF | c.3832C > T/c.5509G > T | p.(Gln1278*)/p.(Asp1837Tyr) |
91 | DYSF | c.509C > A/c.5907G > C/c.610C > T/c.1120G > C/ | p.(Ala170Glu)/p.(Trp1969Cys)/p.(Arg204*)/p.(Val374Leu)/ |
92 | SGCB | c.341C > T/c.341C > T | p.(Ser114Phe)/p.(Ser114Phe) |