Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

Benutzer: Gast

Titel:: Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype
Dokumenttyp:: Zeitschriftenaufsatz
Autor(en):: Berghold, Veronika M. ; Koko, Mahmoud ; Berutti, Riccardo ; Plecko, Barbara
Stichworte:: Pediatrics ; Na ; loss of function (LOF) ; ion channel gene defect ; whole exome sequencing ; ion channels ; sodium channel paralogs ; genetic testing ; complex I deficiency
Zeitschriftentitel:: Frontiers in Pediatrics
Jahr:: 2022
Band / Volume:: 10
Volltext / DOI:: doi:10.3389/fped.2022.944784
Verlag / Institution:: Frontiers Media S.A.
E-ISSN:: 2296-2360
Publikationsdatum:: 26.08.2022
CC-Lizenz:: by, https://creativecommons.org/licenses/by/4.0

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