When all is lost…a severe myopathy with hypotonia from sodium channel mutations.
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 26917582.
- Also identified by DOI 10.1093/brain/awv400 and PMC identifier 4990650.
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Abstract
<b>This scientific commentary refers to “Loss-of-function mutations in <i>SCN4A</i> cause severe foetal hypokinesia or ‘classical’ congenital myopathy”, by Zaharieva <i>et al.</i> (doi:10.1093/brain/awv352).</b>
Medical subject headings
- Hypokinesia
- Mutation
- Myopathies, Structural, Congenital
- NAV1.4 Voltage-Gated Sodium Channel