טוען...
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...
שמור ב:
| הוצא לאור ב: | Neurology |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Lippincott Williams & Wilkins
2016
|
| נושאים: | |
| גישה מקוונת: | 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 |
| תגים: |
הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!
|