Arg953* mutation in Periaxin causes CMT4F without nerve hypertrophy on ultrasound imaging: A case report and review of the literature

Clin Neurophysiol. 2023 Mar:147:14-16. doi: 10.1016/j.clinph.2022.12.007. Epub 2022 Dec 26.

Authors

Ryan Castoro¹, James B Caress², Jun Li³, Michael S Cartwright²

Affiliations

¹ Department of Neurology, Wake Forest School of Medicine, NC, USA; Department of Neurology, Wayne State University, Detroit, MI, USA. Electronic address: rcastoro@wayne.edu.
² Department of Neurology, Wake Forest School of Medicine, NC, USA.
³ Houston Methodist Neurological Institute, Houston, TX, USA.

PMID: 36623372
DOI: 10.1016/j.clinph.2022.12.007

No abstract available

Publication types

Review
Case Reports
Letter

MeSH terms

Hereditary Sensory and Motor Neuropathy*
Humans
Hypertrophy
Membrane Proteins / genetics
Mutation

Substances

periaxin
Membrane Proteins