A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths


Nelis E., Erdem S., Tan E., Lofgren A., Ceuterick C., De Jonghe P., ...More

NEUROMUSCULAR DISORDERS, vol.12, no.9, pp.869-873, 2002 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 9
  • Publication Date: 2002
  • Doi Number: 10.1016/s0960-8966(02)00046-9
  • Journal Name: NEUROMUSCULAR DISORDERS
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.869-873

Abstract

Mutations in the myotubularin-related protein 2 gene on chromosome 11q22 are known to cause autosomal recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. We screened the coding region of the myotubularin-related protein 2 gene in a Turkish consanguineous Charcot-Marie-Tooth disease family compatible with linkage to chromosome 11q22. A homozygous cytosine to thymine missense mutation at nucleotide position 847, resulting in an amino acid substitution of arginine to tryptophan at codon 283, was detected in exon 9 of the MTMR2 gene. This is the second homozygous missense mutation associated with recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths. (C) 2002 Elsevier Science B.V. All rights reserved.