Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in <i>HSPB1</i> Gene: A Case Series
Mutations in <i>HSPB1</i> are known to cause Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). In this study, we presented three patients with mutation in <i>HSPB1</i> who were diagnosed with dHMN. Proband 1 was a 14-year-old male with...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-09-01
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| Series: | Biomolecules |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2218-273X/12/10/1382 |