Fig 1.
Identified mutations and phenotypic groups.
Table 1.
Number of identified mutations.
Fig 2.
Distribution of intronic breakpoints in large intragenic rearrangements in the DMD gene.
(A) Breakpoints in deletions. (B) Breakpoints in duplications. 5’ breakpoints in grey and 3’ breakpoints in white.
Fig 3.
Distribution of identified point mutations and phenotypic groups.
Fig 4.
Distribution of point mutations distribution along the dystrophin domains.
Mutations in DMD in red, in IMD in green, and in BMD in blue. Mutations detected in female isolated carriers in black. CH1-2: calponin homology domains binding actine ABD1; H1–H4: hinge regions; R1-24: spectrin-like repeats; WW: domain containing two tryptophans; EF-1-2: putative calcium binding sites; ZZ: zinc-finger domain.
Fig 5.
Distribution of point mutations identified at DMD exons.
Asterisks indicate exons containing CpG codons.
Table 2.
Mutation rate per nuclotide and type of mutation.
Mutational type target was calculated in nucleotides according to muscular isoform Dp427m (NM_004006). μx is the mutational rate per nucleotide and per generation for each mutation type.
Fig 6.
Distribution of the splice site mutations according to exon/intron boundaries.
Nucleotide positions in x axis. Donor sites (in black) from +1 to +9 positions. Acceptor site (in grey) from -1 to -9 position. Number of mutations identified in each position in y axis.
Fig 7.
Exceptions to the reading frame rule in large intragenic rearrangements.
(A) In-frame mutations in DMD patients. (B) Frameshift mutations in BMD patients. Asterisk indicates mutations identified in both phenotypes.