Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype
We present a now 18-year-old female patient with a severe congenital myopathy phenotype, originally diagnosed as mitochondrial myopathy, however later revealed to constitute a SCN4A-related myopathy based on genetic testing. After birth, floppiness, bradycardia and respiratory insufficiency ensued,...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-08-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |