期刊
NEUROMUSCULAR DISORDERS
卷 12, 期 9, 页码 869-873出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0960-8966(02)00046-9
关键词
Charcot-Marie-Tooth disease; focally folded myelin; myotubularin related protein 2 gene; MTMR2; point mutation; peripheral neuropathy
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.
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