Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F
Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy. Mutations in the periaxin gene ( PRX ) can cause CMT type 4F, an autosomal recessive neuropathy, which is clinically characterized by slowly progressive distal muscle atrophy and weakness, with pes cavus deformity of the foo...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2020-10-01
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| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/0300060519862064 |