Article
The phenotype of the Gly94fsX222 PMP22 insertion.
Journal of the peripheral nervous system : JPNS - 1 Jun 2011
de Vries Sara D J, Verhamme Camiel, van Ruissen Fred, van Paassen Barbara W, Arts Willem F, Kerkhoff Henk, van Engelen Baziel G M, Lammens Martin, de Visser Marianne, Baas Frank, van der Kooi Anneke J
Abstract excerpt
Point mutations in PMP22 are relatively rare and the phenotype may vary from mild hereditary neuropathy with liability to pressure palsies (HNPP) to severe Charcot-Marie-Tooth type 1 (CMT1). We describe the phenotype of the Gly94fsX222 mutation in the PMP22 gene. Medical records of all patients were reviewed and 11 patients were re-examined. EMG was carried out in nine patients and nerve biopsy in one. Thirteen...
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