Title: | Homozygous C-terminal loss-of-function Na(V)1.4 variant in a patient with congenital myasthenic syndrome |
Journal : | Journal of neurology, neurosurgery and psychiatry |
Authors: | Echaniz-Laguna A ; Biancalana V ; Nadaj-Pakleza A ; Fournier E ; Matthews E ; Hanna MG ; MÀnnikkà R |
Material Type: | Article |
Publisher: | England, 06/2020 |
Languages: | English |
Keywords : | adulthood ; case studies ; congenital myasthenic syndrome ; consanguinity ; female ; genetic diagnosis ; letters ; SCN4A gene ; Turkey |
Keywords: | channels;myasthenia;neuromuscular; |
Pubmed / DOI : | Pubmed : 32487525 / DOI : 10.1136/jnnp-2020-323173 |
N° Profil MNM : | 2020053 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32487525 |