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 H RaskindElisabeth A RosenthalSam SheppeardSamuel StrohbehnVirginia P SybertThao T TranMark H Wenernull nullPeter H H ByersStanley F NelsonMichael J BamshadKatrina M DippleDavid L VeenstraSuzanne HoppinsFuki M HisamaPublished in: Neurology. Genetics (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.