. 2015 May 26;2(2):2329048X15585345. doi: 10.1177/2329048X15585345

Table 4.

Point mutations or small rearrangements for DMD and BMD patients (Reference sequence: NM_004006.2).

DMD Point Mutation
Exon 6/c.453T>A, Tyr151*	Exon 34/c.4729C>T, Arg1577*
Exon 12/c.1375G>T, Glu459*^a	Exon 41/c.5800del7+c.5845_5846ins14^a
Exon 13/c.1594C>T, Gln532*	Exon 44/c.6385_6388delAAGA^a
Exon 16/c.1873C>T, Gln625*	Exon 53/c.7755G>A, Tyr2585*
Exon 16/c.1843C>T, Glu615*	Exon 53/c.7798_7799insCA, Arg2600Thrfs*15^a
Exon 17/c.2086del13, Val696Lysfs*29	Exon 56/c.8224C>T, Glu2742*^a
Exon 20/c.2601delAA, Gln869Valfs*5	Exon 58/c.8608C>T, Arg2870*
Exon 23/c.2968C>T, Gln990*	Exon 59/c.8745G>A, Trp2915*
Exon 26/c.3556G>T, Glu1186*	Exon 61/c.9156_9157insT
Exon 30/c.4099C>T, Gln1367*	Exon 62/c.9204_9207delCAAA
Exon 32/c.4375C>T, Arg1459*	IVS36-9G>A
Exon 32/c.4499C>A, Ser1500*^a	IVS45-1G>T^a
Exon 33/c.4570A>T, Lys1524*	IVS70+1G>A
BMD Point Mutation
Exon 18/c.2169-1_2169GG>TT^a	Exon 25/c.3432+1G>A, skip exon 25^b

Abbreviations: DMD, Duchenne Muscular Dystrophy; BMD, Becker Muscular Dystrophy. ^aMutations that have not been reported in the literature. ^bIn-frame mutation by prediction.