Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Mariko OkuboKanako GotoHirofumi KomakiHarumasa NakamuraMadoka Mori-YoshimuraYukiko K HayashiSatomi MitsuhashiSatoru NoguchiEn KimuraIchizo Nishino

Published in: Orphanet journal of rare diseases (2017)

We report the largest dystrophinopathies mutation dataset in Japan from a national patient registry, "Remudy". This dataset provides a useful reference to support the genetic diagnosis and treatment of dystrophinopathy.

Keyphrases

genome wide
copy number
case report