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The frequency of large deletion mutations (≥1 exon) and its phenotypic spectrum. A total of 4929 patients with deletions from the LOVD database (as of 22 June 2018) were used. Deletions involving 20 or more patients are shown. Note the top two mutations are in-frame deletions and exons 45–55 deletion is ranked at 13th. Asterisk, exons 45–55 deletion; “IN,” in-frame deletions (otherwise out-of-frame deletions). DMD: Duchenne muscular dystrophy; BMD: Becker muscular dystrophy.
