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Table 1 Previously described large rearrangements identified in this study and their reading frame shifts

From: Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Family no. Phenotype Multiplex PCR MLPA del/dup Exon(s) del/dup Codons del/dup Frame shift Amino acid changea cDNAa
DS-23 DMD No del Del 10–11 371 123 2/3 Stop at 323 p.His321PhefsX3 c.961_1331del
DS-1 DMD Del 19 Del 18–20 454 151 1/3 − 1 p.Arg723Lys874 c.2169_2622del
DS-37 IMD Del 44 Del 44 148 49 1/3 Stop at 2113 p.Arg2098AsnfsX16 c.6291_6438del
DS-34 ND Del 44–48 Del 44–48 808 269 1/3 − 1 p.Arg2098Gln2366del c.6291_7098del
DS-24 DMD Del 45 Del 45 176 58 2/3 Stop at 2163 p.Glu2147AlafsX17 c.6439_6614del
DS-8 IMD Del 45–50 Del 45–50 871 290 1/3 Stop at 2155 p.Glu2147LeufsX9 c.6439_7309del
DS-38 IMD Del 45–52 Del 45–52 1222 407 1/3 Stop at 2168 p.Glu2147LeufsX22 c.6439_7660del
DS-29 DMD Del 47–50 Del 47–50 547 182 1/3 Stop at 2263 p.Val2257LeufsX7 c.6763_7309del
DS-20 ND Del 47–50 Del 47–50 547 182 1/3 Stop at 2263 p.Val2257LeufsX7 c.6763_7309del
DS-48 BMD Del 48 Del 48 186 62 In-frame p.Val2305Gln2366del c.6913_7098del
DS-30 DMD Del 50 Del 49–50 211 70 1/3 Stop at 2375 p.Glu2367LeufsX9 c.7099_7309del
DS-31 IMD Del 50 Del 49–50 211 70 1/3 Stop at 2375 p.Glu2367LeufsX9 c.7099_7309del
DS-36 DMD Del 50 Del 50 109 36 1/3 Stop at 2409 p.Arg2401LeufsX9 c.7201_7309del
DS-32 IMD Del 50 Del 50 109 36 1/3 Stop at 2409 p.Arg2401LeufsX9 c.7201_7309del
DS-33 ND Del 50 Del 50 109 36 1/3 Stop at 2409 p.Arg2401LeufsX9 c.7201_7309del
DS-35 ND Del 50 Del 50 109 36 1/3 Stop at 2409 p.Arg2401LeufsX9 c.7201_7309del
DS-27 ND Del 50–52 Del 50–52 460 153 1/3 Stop at 2422 p.Arg2401LeufsX22 c.7201_7660del
DS-12 DMD Del 51 Del 51 233 77 2/3 Stop at 2469 p.Ser2437CysfsX33 c.7310_7542del
DS-18 DMD No del Del 55 190 63 1/3 Stop at 2700 p.Val2677ThrfsX24 c.8028_8217del
DS-11 ND No del Dup 50–51 343 114 In-frame p.Arg2401Lys2514dup c.7201-?_7542 +?dup
  1. DMD Duchenne muscular dystrophy, IMD intermediate muscular dystrophy, BMD Becker muscular dystrophy, ND not determined
  2. aThese data are based on the Leiden Muscular Dystrophy Pages (http://www.dmd.nl/) and the UMD-DMD (http://www.umd.be/DMD/)