Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.
Gregory HaberKristin M ConwayPangaja ParamsothyAnindya RoyHobart RogersXiang LingNicholas KozauerNatalie StreetPaul A RomittiDeborah J FoxHan C PhanDennis MatthewsEmma CiafaloniJoyce OleszekKatherine A JamesMaureen GalindoNedra WhiteheadNicholas E JohnsonRussell J ButterfieldShree PandyaSwamy VenkateshVenkatesh Atul BhattaramPublished in: Muscle & nerve (2020)
Delayed LoA in males with mutations amenable to exon-skipping therapy is consistent with previous studies. These findings suggest that clinical trials including exon 8 and 44 skippable males should consider mutation information prior to randomization.