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