Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature

Neurol Sci. 2013 Sep;34(9):1705-7. doi: 10.1007/s10072-012-1277-5. Epub 2012 Dec 24.

Authors

Marco Luigetti¹, Marcella Zollino, Guido Conti, Angela Romano, Mario Sabatelli

Affiliation

¹ Institute of Neurology, Catholic University of the Sacred Heart, Largo F. Vito 1, 00168, Rome, Italy.

PMID: 23263778
DOI: 10.1007/s10072-012-1277-5

No abstract available

Publication types

Case Reports
Review

MeSH terms

Charcot-Marie-Tooth Disease / genetics*
Deafness / genetics*
Female
Humans
Middle Aged
Myelin Proteins / genetics*
Point Mutation*

Substances

Myelin Proteins
PMP22 protein, human