Berghold, Veronika M. ; Koko, Mahmoud ; Berutti, Riccardo ; Plecko, Barbara
Titel:
Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype
Stichworte:
Pediatrics ; Na ; loss of function (LOF) ; ion channel gene defect ; whole exome sequencing ; ion channels ; sodium channel paralogs ; genetic testing ; complex I deficiency
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