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De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy

Natalie Keller, Cem Paketçi, Pınar Edem, Holger Thiele, Uluç Yiş, Brunhilde Wirth, Mert Karakaya

2020European Journal of Medical Genetics23 citationsDOI

Topics & Concepts

DNM1LAtrophyNeuroscienceDystoniaPhenotypeBiologyMedicineGeneticsMitochondrial fissionGeneMitochondrionMitochondrial Function and PathologyMetabolism and Genetic DisordersRNA modifications and cancer
De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy | Litcius