Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report
Charcot Marie Tooth (CMT) is a heterogeneous group of genetic disorders characterized by progressive motor and sensory neuropathy. CMT is a multi-gene disorder with several possible mutations responsible for a wide range of clinical presentations. A specific mutation of the ganglioside-induced-diffe...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-10-01
|
| Series: | Frontiers in Neurology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.905725/full |