title: Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.
abstract: BACKGROUND
  Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is otherwise caused by point mutations or small insertions/deletions in one of the 44 known CMT genes.
  
  
  RESULTS
  Conventional sequencing of six CMT genes were followed by Multiplex Ligation-dependent Probe Amplification (MLPA), array Comparative Genomic Hybridization (aCGH) and breakpoint analysis in a large Norwegian CMT pedigree. Affected had an extra copy of the myelin protein zero (MPZ) gene.
  
  
  CONCLUSIONS
  To our knowledge this is the first non-peripheral myelin protein 22 copy number variation to cause Charcot-Marie-Tooth disease.
authors.affiliation: Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, Skien, Norway. helle.hoyer@sthf.no
authors.forename: Helle
authors.initials: H
authors.lastname: Høyer
authors.forename: Geir J
authors.initials: GJ
authors.lastname: Braathen
authors.forename: Anette K
authors.initials: AK
authors.lastname: Eek
authors.forename: Camilla F
authors.initials: CF
authors.lastname: Skjelbred
authors.forename: Michael B
authors.initials: MB
authors.lastname: Russell
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D056905:Chromosome Breakpoints; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D018993:Myelin P0 Protein / Q000235:genetics*; D009664:Norway; D010375:Pedigree; D017933:Peripheral Nervous System / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D017422:Sequence Analysis, DNA
chemical_list: C560547:MPZ protein, human; D018993:Myelin P0 Protein