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Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease
A six-month-old female child came to an ophthalmology consultation because of a convergent strabismus, myotonia of the orbicularis muscles and difficulty walking in cold environments. Further investigation identified a family history of muscular myotonia in the father, grandmother and uncle. The fat...
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| Gepubliceerd in: | Neuroophthalmology |
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| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Taylor & Francis
2020
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7946034/ https://ncbi.nlm.nih.gov/pubmed/33762787 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/01658107.2020.1779316 |
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