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...

Full description

Bibliographic Details
Main Authors: Carmela V. San Luis MD, Coreen Schwartzlow MD, Kenkichi Nozaki MD, PhD, Eroboghene E. Ubogu MD
Format: Article
Language:English
Published: SAGE Publishing 2022-08-01
Series:Journal of Investigative Medicine High Impact Case Reports
Online Access:https://doi.org/10.1177/23247096221117801