PMID- 10329755
OWN - NLM
STAT- MEDLINE
DCOM- 19990702
LR  - 20190501
IS  - 0022-3050 (Print)
IS  - 0022-3050 (Linking)
VI  - 66
IP  - 6
DP  - 1999 Jun
TI  - Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the
      myelin protein zero gene.
PG  - 779-82
AB  - A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was
      characterised by late onset of peripheral neuropathy involvement, Argyll
      Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and 
      nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin
      protein zero (MPZ) found a mutation in codon 124 resulting in substitution of
      threonine by methionine. One of the patients, presently 30 years old, showed only
      Argyll Robertson-like pupils as an objective sign but no clinical or
      electrophysiological signs of peripheral neuropathy.
FAU - Chapon, F
AU  - Chapon F
AD  - Laboratoire de Neuropathologie, Centre Hospitalier Universitaire de Caen, 14033
      Caen, France. chapon-f@chu.caen.fr
FAU - Latour, P
AU  - Latour P
FAU - Diraison, P
AU  - Diraison P
FAU - Schaeffer, S
AU  - Schaeffer S
FAU - Vandenberghe, A
AU  - Vandenberghe A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Neurol Neurosurg Psychiatry
JT  - Journal of neurology, neurosurgery, and psychiatry
JID - 2985191R
RN  - 0 (Myelin P0 Protein)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - *Axons
MH  - Charcot-Marie-Tooth Disease/*genetics/pathology
MH  - Female
MH  - Humans
MH  - Male
MH  - Microscopy, Electron
MH  - Middle Aged
MH  - Mutation
MH  - Myelin P0 Protein/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - Sural Nerve/pathology
PMC - PMC1736388
EDAT- 1999/05/18 00:00
MHDA- 1999/05/18 00:01
CRDT- 1999/05/18 00:00
PHST- 1999/05/18 00:00 [pubmed]
PHST- 1999/05/18 00:01 [medline]
PHST- 1999/05/18 00:00 [entrez]
AID - 10.1136/jnnp.66.6.779 [doi]
PST - ppublish
SO  - J Neurol Neurosurg Psychiatry. 1999 Jun;66(6):779-82. doi: 10.1136/jnnp.66.6.779.