PMID- 21692910
OWN - NLM
STAT- MEDLINE
DCOM- 20111026
LR  - 20110622
IS  - 1529-8027 (Electronic)
IS  - 1085-9489 (Linking)
VI  - 16
IP  - 2
DP  - 2011 Jun
TI  - The phenotype of the Gly94fsX222 PMP22 insertion.
PG  - 113-8
LID - 10.1111/j.1529-8027.2011.00333.x [doi]
AB  - 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 patients originating from seven families with a Gly94fsX222 
      mutation were included and consisted of 10 women and 3 men with a median age of 
      41 years (range 7-67). Five index patients were originally suspected of CMT1. Ten 
      patients had abnormal motor skills during childhood. Nine patients had a history 
      of pressure palsies. Involvement of the olfactory, trigeminal, facial, and 
      pudendal nerves occurred in three patients. Twelve patients had pes cavus and one 
      scoliosis. Distal anterior leg and distal arm weakness were found in 12 and 4 
      patients, respectively. Twelve patients had distal leg sensory abnormalities. 
      Electrophysiological examination revealed a demyelinating sensorimotor 
      neuropathy, both resembling CMT1 and HNPP. Sural nerve biopsy showed 
      demyelinating neuropathy with presence of tomacula. More than three-fourths of 
      the patients with Gly94fsX222 mutation demonstrated a CMT1 phenotype combined 
      with transient deficits. Clinicians should test for this mutation in those 
      patients exhibiting a generalised neuropathy combined with compressive like 
      episodes.
CI  - (c) 2011 Peripheral Nerve Society.
FAU - de Vries, Sara D J
AU  - de Vries SD
AD  - Department of Neurology, Academic Medical Centre, University of Amsterdam, 
      Amsterdam, The Netherlands.
FAU - Verhamme, Camiel
AU  - Verhamme C
FAU - van Ruissen, Fred
AU  - van Ruissen F
FAU - van Paassen, Barbara W
AU  - van Paassen BW
FAU - Arts, Willem F
AU  - Arts WF
FAU - Kerkhoff, Henk
AU  - Kerkhoff H
FAU - van Engelen, Baziel G M
AU  - van Engelen BG
FAU - Lammens, Martin
AU  - Lammens M
FAU - de Visser, Marianne
AU  - de Visser M
FAU - Baas, Frank
AU  - Baas F
FAU - van der Kooi, Anneke J
AU  - van der Kooi AJ
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Peripher Nerv Syst
JT  - Journal of the peripheral nervous system : JPNS
JID - 9704532
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - Tomaculous neuropathy
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Arthrogryposis/*genetics/pathology/*physiopathology
MH  - Charcot-Marie-Tooth Disease/*genetics/pathology/*physiopathology
MH  - Child
MH  - Electrophysiology
MH  - Female
MH  - Hereditary Sensory and Motor Neuropathy/*genetics/pathology/*physiopathology
MH  - Humans
MH  - Male
MH  - Mutation, Missense
MH  - Myelin Proteins/*genetics
MH  - Phenotype
MH  - Point Mutation
MH  - Young Adult
EDAT- 2011/06/23 06:00
MHDA- 2011/10/27 06:00
CRDT- 2011/06/23 06:00
PHST- 2011/06/23 06:00 [entrez]
PHST- 2011/06/23 06:00 [pubmed]
PHST- 2011/10/27 06:00 [medline]
AID - 10.1111/j.1529-8027.2011.00333.x [doi]
PST - ppublish
SO  - J Peripher Nerv Syst. 2011 Jun;16(2):113-8. doi: 
      10.1111/j.1529-8027.2011.00333.x.