De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Maja Tarailo-GraovacFarah R ZahirIrena ZivkovicMichelle MoksaKathryn SelbySunita SinhaCorey NislowSylvia G Stockler-IpsirogluRuth ShefferAnn Saada-ReischJan M FriedmanClara D M van KarnebeekGabriella Ana HorvathPublished in: Molecular genetics & genomic medicine (2019)
Our findings emphasize the importance of genome-wide sequencing in patients with a well-characterized genetic disease with atypical presentation. This approach reduces the potential for misdiagnoses.