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International Journal of Molecular Medicine
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Print ISSN: 1107-3756 Online ISSN: 1791-244X
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September 2011 Volume 28 Issue 3

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International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

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International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

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Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

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Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

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Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

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Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

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International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

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Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

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International Journal of Functional Nutrition

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Article

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis

  • Authors:
    • Byung-Ok Choi
    • Sang-Beom Kim
    • Sumera Kanwal
    • Young Se Hyun
    • Sun Wha Park
    • Heasoo Koo
    • Jeong Hyun Yoo
    • Jae Won Hyun
    • Kee Duk Park
    • Kyoung-Gyu Choi
    • Ki Wha Chung

  • View Affiliations / Copyright

    Affiliations: Department of Neurology, Ewha Womans University School of Medicine, Yangcheon-ku, Seoul 158-710, Republic of Korea, Department of Biological Science and Research Center for Biotechnology, Kongju National University, 182 Sinkwan-dong, Gongju, Chungnam 314-701, Republic of Korea
  • Pages: 389-396
    |
    Published online on: April 18, 2011
       https://doi.org/10.3892/ijmm.2011.678
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Abstract

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous peripheral neuropathy. The objective of this study was to find the causative mutation(s) in a demyelinating autosomal dominant CMT family. A high density SNP-based genome-wide linkage scan was performed, and causative mutations were determined by sequencing of candidate genes in the linkage disequilibrium region. Linkage analysis mapped the underlying gene to a region on chromosome 1q22-q23 with a maximum two-point LOD score of 2.036. Sequencing analysis revealed a novel c.243C>G (His81Gln) mutation in the MPZ gene, which encodes the major integral membrane protein of the peripheral nerve system. MPZ is well known as a CMT-causative gene with wide phenotypic spectrum. The clinical symptoms were more similar to those of patients with the His81Arg than patients with the His81Tyr mutation. The novel mutation completely co-segregated with affected members, and was not found in controls. Therefore, we suggest that the identified mutation in MPZ is the underlying cause of CMT in the family. In addition, this study demonstrated that the clinical phenotypes may be variable with different mutations at the same site in the MPZ gene.

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Copy and paste a formatted citation
Spandidos Publications style
Choi B, Kim S, Kanwal S, Hyun YS, Park SW, Koo H, Yoo JH, Hyun JW, Park KD, Choi K, Choi K, et al: MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. Int J Mol Med 28: 389-396, 2011.
APA
Choi, B., Kim, S., Kanwal, S., Hyun, Y.S., Park, S.W., Koo, H. ... Chung, K.W. (2011). MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. International Journal of Molecular Medicine, 28, 389-396. https://doi.org/10.3892/ijmm.2011.678
MLA
Choi, B., Kim, S., Kanwal, S., Hyun, Y. S., Park, S. W., Koo, H., Yoo, J. H., Hyun, J. W., Park, K. D., Choi, K., Chung, K. W."MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis". International Journal of Molecular Medicine 28.3 (2011): 389-396.
Chicago
Choi, B., Kim, S., Kanwal, S., Hyun, Y. S., Park, S. W., Koo, H., Yoo, J. H., Hyun, J. W., Park, K. D., Choi, K., Chung, K. W."MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis". International Journal of Molecular Medicine 28, no. 3 (2011): 389-396. https://doi.org/10.3892/ijmm.2011.678
Copy and paste a formatted citation
x
Spandidos Publications style
Choi B, Kim S, Kanwal S, Hyun YS, Park SW, Koo H, Yoo JH, Hyun JW, Park KD, Choi K, Choi K, et al: MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. Int J Mol Med 28: 389-396, 2011.
APA
Choi, B., Kim, S., Kanwal, S., Hyun, Y.S., Park, S.W., Koo, H. ... Chung, K.W. (2011). MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. International Journal of Molecular Medicine, 28, 389-396. https://doi.org/10.3892/ijmm.2011.678
MLA
Choi, B., Kim, S., Kanwal, S., Hyun, Y. S., Park, S. W., Koo, H., Yoo, J. H., Hyun, J. W., Park, K. D., Choi, K., Chung, K. W."MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis". International Journal of Molecular Medicine 28.3 (2011): 389-396.
Chicago
Choi, B., Kim, S., Kanwal, S., Hyun, Y. S., Park, S. W., Koo, H., Yoo, J. H., Hyun, J. W., Park, K. D., Choi, K., Chung, K. W."MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis". International Journal of Molecular Medicine 28, no. 3 (2011): 389-396. https://doi.org/10.3892/ijmm.2011.678
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