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Table 2 Confirmed point mutations, small deletion/insertion of DMD/BMD patients

From: A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China

CHFU no. Phenotype Family history Exon/Intron Sequencing results Change of protein Carrier status of mother
7 DMD No Exo 19 c.2308A > T p.Lys770X Unknown
11 DMD No Exo 34 *c.4746_4747delCT p.Leu1583ThrfsX18 Unknown
12 DMD No Exo 19 c.2302C > T p.Arg768X Unknown
13 DMD Yes Exo 34 *c.4808_4809insGGAA p.Met1603GlufsX3 Yes
19 DMD Yes Exo 22 c.2816 T > A p.Leu939X Yes
20 DMD No Exo 17 c.2137C > T p.Gln713X Unknown
21 DMD No Exo 51 *c.7327_7328insA p.Asn2444SerfsX9 Unknown
22 DMD Yes Int 21 c.2803 + 1G > A   Yes
26 DMD No Exo 33 c.4630delA p.Glu1545fs Unknown
33 DMD No Exo 16 *c.1886C > G p.Ser629X Unknown
42 DMD Yes Exo 60 c.8944C > T p.Arg2982X Yes
45 BMD No Int 17 *c.2169-1G > T   Unknown
59 DMD No Exo 52 c.7657C > T p.Arg2553X Unknown
60 DMD No Exo 55 *c.8147-8148insCAGAAG p.His2717ArgfsX3 Unknown
CTGAAACAACTGCCAA
TGTCCTACA
61 DMD No Exo 13 c.1594C > T p.Gln532X Yes
62 BMD Yes Exo 4 *c.264_264 + 4delTGTAA p.Pro63_Asn88del Yes
64 DMD Yes Exo 64 *c.9297_9300dup p.Asn3100Asnfs Yes
67 BMD No Exo 25 c.3432G > T p.Gln1144His Unknown [19]
68 DMD No Exo 18 *c.2191delC p.Arg1288LeufsX7 Unknown
71 DMD No Exo 44 c.6292C > T p.Arg2098X Yes
74 DMD No Int 67 c.9807 + 5G > A   Unknown
75 DMD No Exo 42 *c.6045delA p.Asp2016AsnfsX23 Unknown
79 DMD No Exo 64 c.9337C > T p.Arg3113X Unknown
80 BMD No Exo 25 *c.3388G > T p.Glu1130X Unknown
86 DMD No Exo 66 c.9568C > T p.Arg3190X Unknown
89 DMD No Exo 33 *c.4538-4541GTGAdel p.Lys1514fs Unknown
91 DMD No Int 54 *c.8028-1G > C   Unknown
92 DMD Yes Exo 67 *c.9722_9723delCT p.Tyr3242ProfsX8 Yes
93 BMD No Exo 29 c.3940C > T p.Arg1314X Unknown
96 DMD Yes Exo 47 *c.6804_6807delACAA p.Asn2269fs Yes
97 DMD Yes Exo 59 c.8713C > T p.Arg2905X Yes
100 DMD No Exo 44 *c.6391_6392delCA p.Asn2132Leufs Unknown
101 DMD Yes Exo 10 c.998C > A p.Ser333X Yes
106 DMD No Exo 55 c.8038C > T p.Arg2680X Unknown
107 DMD No Exo 15 *c.1713insT p.Phe572fs No
113 DMD No Exo 64 c.9337C > T p.Arg3113X Unknown
114 DMD No Exo 42 *c.6033insTTAA p.Leu2012IlefsX11 Yes
127 DMD No Exo 19 *c.2300delA p.Gly768GlufsX25 Unknown
135 DMD Yes Exo 59 *c.8740G > T p.Glu2914X Yes
145 DMD Yes Exo 70 c.10171C > T p.Arg3391X Yes
148 DMD No Exo 52 c.7657C > T p.Arg2553X Unknown
161 DMD No Exo 10 *c.1033C > T p.Gln345X Yes
165 DMD No Exo 32 c.4483C > T p.Gln1495X Unknown
170 DMD Yes Exo 20 *c.2571delC p.Pro858ProfsX13 Yes
171 DMD No Int 14 c.1704 + 1G > C   Yes
172 DMD No Exo 44 c.6292C > T p.Arg2098X Yes
177 DMD Yes Exo 12 *c.1412delC p.Lys472GlyfsX15 Yes
192 DMD No Exo 70 c.10108C > T p.Arg3370X Unknown
193 DMD No Exo 39 *c.5485C > T p.Gln1829X Unknown
197 DMD Yes Exo 64 *c.9297_9300dup p.Asn3100Asnfs Yes
201 DMD No Exo 70 c.10108C > T p.Arg3370X Unknown
  1. Abbreviations: BMD Becker muscular dystrophy, DMD Duchenne muscular dystrophy, CHFU Children’s Hospital of Fudan University.
  2. Asterisks indicate novel mutations that have not been previously reported in the Leiden Muscular Dystrophy database (updated 30 December 2013) (http://www.dmd.nl/).
  3. Case no.64 is no.197’s uncle.