Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia
The clinical and genetic features of hereditary motor and sensory neuropathy (HMSN; Charcot–Marie–Tooth disease, CMT) caused by newly identified missense mutation s.65G>T (p.Pro22His) in NEFL gene located on the chromosome 8р21.2 are described. The disease was diagnosed in a large family from...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2016-07-01
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| Series: | Nervno-Myšečnye Bolezni |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/154 |