A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature
Introduction: Charcot–Marie–Tooth (CMT) is a group of inherited peripheral neuropathies characterized by wide genotypic and phenotypic variability. The onset is typically in childhood, and the most frequent clinical manifestations are predominantly distal muscle weakness, hypoesthesia, foot deformit...
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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
MDPI AG
2023-05-01
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| Serier: | Children |
| Fag: | |
| Online adgang: | https://www.mdpi.com/2227-9067/10/5/901 |
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