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- Title:
Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype
- Document type:
- Zeitschriftenaufsatz
- Author(s):
- Berghold, Veronika M. ; Koko, Mahmoud ; Berutti, Riccardo ; Plecko, Barbara
- Keywords:
- Pediatrics ; Na ; loss of function (LOF) ; ion channel gene defect ; whole exome sequencing ; ion channels ; sodium channel paralogs ; genetic testing ; complex I deficiency
- Journal title:
- Frontiers in Pediatrics
- Year:
- 2022
- Journal volume:
- 10
- Fulltext / DOI:
- doi:10.3389/fped.2022.944784
- Publisher:
- Frontiers Media S.A.
- E-ISSN:
- 2296-2360
- Date of publication:
- 26.08.2022
- CC license:
- by, https://creativecommons.org/licenses/by/4.0
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