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A recessive Na(v)1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis
OBJECTIVE: To determine the molecular basis of a complex phenotype of congenital muscle weakness observed in an isolated but consanguineous patient. METHODS: The proband was evaluated clinically and neurophysiologically over a period of 15 years. Genetic testing of candidate genes was performed. Fun...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neurology |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Lippincott Williams & Wilkins
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4731685/ https://ncbi.nlm.nih.gov/pubmed/26659129 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002264 |
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