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A case of paramyotonia congenita in pregnancy

Paramyotonia congenita is a rare autosomal dominant non-dystrophic myopathy caused by mutations in the SNC4A gene, which encodes for the voltage-gated sodium channel in skeletal muscle. Symptom onset is typically during early childhood and is characterised by myotonia followed by flaccid paralysis o...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Obstet Med
Prif Awduron: Brooks, EK, Schweitzer, D, Robinson, HL
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: SAGE Publications 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7726174/
https://ncbi.nlm.nih.gov/pubmed/33343696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1753495X18816171
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