P 44 Brisk jerk reflexes in a CMT case – novel heterozygous variant c.785T>C; p.Leu262Pro in KIF5A explaining the mixed phenotype
| Autor: | Dohrn, M.F., Glöckle, N., Mulahasanovic, L., Sprecher, A., Biskup, S., Claeys, K.G., Schulz, J.B., Gess, B. |
|---|---|
| Zdroj: | In Clinical Neurophysiology October 2017 128(10):e352-e352 |
| Databáze: | ScienceDirect |
| Externí odkaz: |
|
Full Text from ScienceDirect