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Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

作者信息

Koutsis Georgios, Pandraud Amelie, Polke James M, Wood Nicholas W, Panas Marios, Karadima Georgia, Houlden Henry

出版信息

Brain. 2012 Aug;135(Pt 8):e217, 1-6; author reply e218, 1-2. doi: 10.1093/brain/aws034. Epub 2012 Mar 1.

Abstract
摘要

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本文引用的文献

1
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.
2
Variable phenotypes are associated with PMP22 missense mutations.
Neuromuscul Disord. 2011 Feb;21(2):106-14. doi: 10.1016/j.nmd.2010.11.011. Epub 2010 Dec 30.
3
Two families with novel PMP22 point mutations: genotype-phenotype correlation.
J Peripher Nerv Syst. 2009 Sep;14(3):208-12. doi: 10.1111/j.1529-8027.2009.00235.x.
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Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Neuromolecular Med. 2006;8(1-2):43-62. doi: 10.1385/nmm:8:1-2:43.
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Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.
Brain. 2005 May;128(Pt 5):1168-77. doi: 10.1093/brain/awh483. Epub 2005 Mar 17.
8
Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.
Neurology. 2003 Feb 11;60(3):506-8. doi: 10.1212/01.wnl.0000044048.27971.fc.

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