Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.
A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons, apart from securing stability of the myelin layer.
Bienfait
H M E
HM
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
Faber
C G
CG
Baas
F
F
Gabreëls-Festen
A A W M
AA
Koelman
J H T M
JH
Hoogendijk
J E
JE
Verschuuren
J J
JJ
Wokke
J H J
JH
de Visser
M
M
D000328:Adult; D017668:Age of Onset; D000368:Aged; D001369:Axons / Q000473:pathology*; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D015331:Cohort Studies; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000473:pathology; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D008875:Middle Aged; D018993:Myelin P0 Protein / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology; D014459:Ulnar Nerve / Q000503:physiopathology; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D047908:Intracellular Signaling Peptides and Proteins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D010750:Phosphoproteins; D000097002:Gap Junction beta-1 Protein; C115628:MPZL1 protein, human; C073687:PMP22 protein, human