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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)
  1. Mutations in bold letters were detected only in Czech LGMD2 patients. The variant c.966A > T in italics is probably a nucleotide polymorphism (LMDP, dbSNP-rs7481951).