Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family

Eur J Neurol. 2018 Feb;25(2):e22-e23. doi: 10.1111/ene.13532.

P Bogdanova-Mihaylova¹, R P J Murphy¹, M D Alexander^{2

3}, J C McHugh^{2

3}, A Reghan Foley⁴, F Brett⁵, S M Murphy^{1

3}

¹ Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin.
² Department of Clinical Neurophysiology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin.
³ Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.
⁴ Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
⁵ Histopathology Department, Beaumont Hospital, Dublin, Ireland.

No abstract available

Keywords: DPAGT1; congenital myasthenic syndrome.

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