DNM1 encephalopathy

Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant 1).

1)
Sahly AN, Krochmalnek E, St-Onge J, Srour M, Myers KA. Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant [published online ahead of print, 2020 Sep 9]. Hum Genet. 2020;10.1007/s00439-020-02224-5. doi:10.1007/s00439-020-02224-5