PMID- 10071056
OWN - NLM
STAT- MEDLINE
DCOM- 19990318
LR  - 20190513
IS  - 0006-8950 (Print)
IS  - 0006-8950 (Linking)
VI  - 122 ( Pt 2)
DP  - 1999 Feb
TI  - The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is
      associated with a clinically distinct Charcot-Marie-Tooth phenotype.
PG  - 281-90
AB  - We observed a missense mutation in the peripheral myelin protein zero gene (MPZ, 
      Thr124Met) in seven Charcot-Marie-Tooth (CMT) families and in two isolated CMT
      patients of Belgian ancestry. Allele-sharing analysis of markers flanking the MPZ
      gene indicated that all patients with the Thr124Met mutation have one common
      ancestor. The mutation is associated with a clinically distinct phenotype
      characterized by late onset, marked sensory abnormalities and, in some families, 
      deafness and pupillary abnormalities. Nerve conduction velocities of the motor
      median nerve vary from <38 m/s to normal values in these patients. Clusters of
      remyelinating axons in a sural nerve biopsy demonstrate an axonal involvement,
      with axonal regeneration. Phenotype-genotype correlations in 30 patients with the
      Thr124Met MPZ mutation indicate that, based on nerve conduction velocity
      criteria, these patients are difficult to classify as CMT1 or CMT2. We therefore 
      conclude that CMT patients with slightly reduced or nearly normal nerve
      conduction velocity should be screened for MPZ mutations, particularly when
      additional clinical features such as marked sensory disturbances, pupillary
      abnormalities or deafness are also present.
FAU - De Jonghe, P
AU  - De Jonghe P
AD  - Department of Biochemistry, Flanders Interuniversity Institute for Biotechnology 
      (VIB), University of Antwerp (UIA), University Hospital Antwerpen (UZA), Belgium.
      dejonghe@uia.ua.ac.be
FAU - Timmerman, V
AU  - Timmerman V
FAU - Ceuterick, C
AU  - Ceuterick C
FAU - Nelis, E
AU  - Nelis E
FAU - De Vriendt, E
AU  - De Vriendt E
FAU - Lofgren, A
AU  - Lofgren A
FAU - Vercruyssen, A
AU  - Vercruyssen A
FAU - Verellen, C
AU  - Verellen C
FAU - Van Maldergem, L
AU  - Van Maldergem L
FAU - Martin, J J
AU  - Martin JJ
FAU - Van Broeckhoven, C
AU  - Van Broeckhoven C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Brain
JT  - Brain : a journal of neurology
JID - 0372537
RN  - 0 (Myelin P0 Protein)
RN  - 2ZD004190S (Threonine)
RN  - AE28F7PNPL (Methionine)
SB  - IM
MH  - Aged
MH  - Biopsy
MH  - Charcot-Marie-Tooth Disease/diagnosis/*genetics
MH  - DNA Mutational Analysis
MH  - Electromyography
MH  - Family Health
MH  - Female
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Median Nerve/physiology
MH  - Methionine
MH  - Motor Neurons/pathology/physiology
MH  - Myelin P0 Protein/*genetics
MH  - Neurons, Afferent/pathology/physiology
MH  - Pedigree
MH  - Phenotype
MH  - *Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Sural Nerve/pathology
MH  - Threonine
MH  - Ulnar Nerve/physiology
EDAT- 1999/03/10 00:00
MHDA- 1999/03/10 00:01
CRDT- 1999/03/10 00:00
PHST- 1999/03/10 00:00 [pubmed]
PHST- 1999/03/10 00:01 [medline]
PHST- 1999/03/10 00:00 [entrez]
AID - 10.1093/brain/122.2.281 [doi]
PST - ppublish
SO  - Brain. 1999 Feb;122 ( Pt 2):281-90. doi: 10.1093/brain/122.2.281.