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...

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Detalles Bibliográficos
Autores principales: San Luis, Carmela V., Schwartzlow, Coreen, Nozaki, Kenkichi, Ubogu, Eroboghene E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9527530/
https://www.ncbi.nlm.nih.gov/pubmed/35993408
http://dx.doi.org/10.1177/23247096221117801

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9527530/
https://www.ncbi.nlm.nih.gov/pubmed/35993408
http://dx.doi.org/10.1177/23247096221117801

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