Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Andrew Ben StergachisElizabeth E BlueMadelyn A GillentineLee-Kai WangUlrike SchwarzeAdriana Sedeño CortésJane RanchalisAimee AllworthAustin E BlandSirisak ChanprasertJingheng ChenDaniel DohertyAndrew B FoltaIan GlassMartha Horike-PyneAlden Y HuangAlyna T KhanKathleen A LeppigDanny E MillerGhayda MirzaaAzma ParhinWendy RaskindElisabeth A RosenthalSam SheppeardSamuel StrohbehnVirginia P SybertThao T TranMark Wenernull nullPeter H ByersStanley F NelsonMichael J BamshadKatrina M DippleGail P JarvikSuzanne HoppinsFuki M HisamaPublished in: bioRxiv : the preprint server for biology (2023)
This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.