A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report
Dynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense heterozygous point mutation (c.1609 G>A) in the highly conserved pleckstrin homology domain in exon 15 of Dynamin 2 presenting with progressive length-dependent sensorimotor polyne...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2022-08-01
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Series: | Journal of Investigative Medicine High Impact Case Reports |
Online Access: | https://doi.org/10.1177/23247096221117801 |