PMID: 8938258Feb 9, 1996Paper

A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis

Neuroscience Letters
N TachiK Hayasaka

Abstract

Most of Charcot-Marie-Tooth (CMT) 1 families are associated with a duplication in chromosome 17p11.2-p12, which includes the gene encoding peripheral myelin protein-22 (PMP-22). Point mutations of the Po gene have been identified in a few of the CMT 1 families in whom no duplication was found. We investigated a new mutation of the Po gene in one of those families. A to G substitution of nucleotide 389 in exon 3 resulted in Lys 131 Arg substitution. This structural change of extracellular domain of Po would alter the function of Po and result in an impairment of peripheral myelin compaction.

References

Oct 31, 1991·Biochemical and Biophysical Research Communications·K HayasakaK Uyemura
Oct 25, 1990·Nucleic Acids Research·M EspelundK S Jakobsen
Sep 1, 1993·Human Molecular Genetics·K HayasakaV V Ionasescu
Jul 8, 1993·The New England Journal of Medicine·B B RoaJ R Lupski

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Citations

Feb 10, 1998·Journal of the Neurological Sciences·N TachiK Sasaki
Dec 31, 1997·Brain & Development·N KosukaS Chiba
Jul 1, 1997·Pediatric Neurology·N TachiS Chiba
Nov 18, 2000·Journal of Neurology, Neurosurgery, and Psychiatry·M DonaghyC Bell
Aug 28, 2015·Brain : a Journal of Neurology·Oranee SanmaneechaiUNKNOWN Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC)
Nov 1, 2012·Acta Neurologica Scandinavica. Supplementum·G J Braathen
Jan 18, 2006·Journal of the Neurological Sciences·Michael E Shy
Dec 10, 1997·Mechanisms of Development·I Thesleff, P Sharpe

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