Carmela V San Luis Coreen Schwartzlow Kenkichi Nozaki Eroboghene E Ubogu
10.1177/23247096221117801
J Investig Med High Impact Case Rep
2022 Jan-Dec;10:23247096221117801.
charcot-marie-tooth neuropathy dynamin 2 case report familial genetic studies pathogenic gene mutations
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/35993408/
Charcot-Marie-Tooth Disease / diagnosis Charcot-Marie-Tooth Disease / genetics Charcot-Marie-Tooth Disease / pathology Dynamin II / genetics
Charcot-Marie-Tooth Disease / diagnosis Charcot-Marie-Tooth Disease / genetics Charcot-Marie-Tooth Disease / pathology Dynamin II / genetics Case Reports Humans Mutation Mutation, Missense Dynamin II
PMC9527530
35993408
A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report
2022