Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
Objective To report a new SYT2 missense mutation causing distal hereditary motor neuropathy and presynaptic neuromuscular junction (NMJ) transmission dysfunction. Methods We report a multigenerational family with a new missense mutation, c. 1112T>A (p. Ile371Lys), in the C2B domain of SYT2, descr...
| Main Authors: | , |
|---|---|
| Other Authors: | , , |
| Format: | Article |
| Language: | English |
| Published: |
Ovid Technologies (Wolters Kluwer Health),
2020-05-07T15:16:10Z.
|
| Subjects: | |
| Online Access: | Get fulltext |