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

Hum Genet. 2020 Dec;139(12):1575-1578. doi: 10.1007/s00439-020-02224-5. Epub 2020 Sep 9.

Ahmed N Sahly^{1

2}, Eric Krochmalnek³, Judith St-Onge³, Myriam Srour^{1

3

4}, Kenneth A Myers^{5

6

7}

¹ Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Glen Site, 1001 Boulevard Décarie, Montreal, QC, H4A 3J1, Canada.
² Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia.
³ Research Institute of the McGill University Medical Centre, Montreal, QC, Canada.
⁴ Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.
⁵ Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Glen Site, 1001 Boulevard Décarie, Montreal, QC, H4A 3J1, Canada. [email protected].
⁶ Research Institute of the McGill University Medical Centre, Montreal, QC, Canada. [email protected].
⁷ Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada. [email protected].

No abstract available

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