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NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1

Title
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1
Authors
Shin J.S.Chung K.W.Cho S.Y.Yun J.Hwang S.J.Kang S.H.Cho E.M.Kim S.-M.Choi B.-O.
Ewha Authors
최병옥
Issue Date
2008
Journal Title
Journal of Human Genetics
ISSN
1434-5161JCR Link
Citation
vol. 53, no. 10, pp. 936 - 940
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Charcot-Marie-Tooth disease (CMT) is classified into demyelinating neuropathy (CMT1) and axonal neuropathy (CMT2). Mutations in the neurofilament light chain polypeptide (NEFL) gene are present in CMT2E and CMT1F neuropathies. Two types of Pro22 mutations have been previously reported: Pro22Ser in CMT2E with giant axons, and Pro22Thr in CMT1F. In this study, we identified another Pro22 mutation, Pro22Arg, in a Korean CMT1 family. An investigation to identify the clinical and pathological characteristics of the Pro22Arg revealed that it is associated with demyelinating neuropathy features in CMT1F. Histopathological findings showed onion bulb formations but no giant axons. It appears that the Pro22 mutations may influence not only the Thr-Pro phosphorylation site by proline-directed protein kinases but also other structural alteration of the NEFL protein in a different way. © 2008 The Japan Society of Human Genetics and Springer.
DOI
10.1007/s10038-008-0333-8
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의학전문대학원 > 의학과 > Journal papers
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