Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.
Andoni Echaniz-LagunaValérie BiancalanaAleksandra Nadaj-PaklezaEmmanuel FournierEmma MatthewsMichael G HannaRoope MannikkoPublished in: Journal of neurology, neurosurgery, and psychiatry (2020)
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