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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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Feb 1998 Volume 1 Issue 2

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Journals

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.

International Journal of Oncology

International Journal of Oncology

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

Molecular Medicine Reports

Molecular Medicine Reports

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

Oncology Reports

Oncology Reports

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

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

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.

Biomedical Reports

Biomedical Reports

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

Molecular and Clinical Oncology

Molecular and Clinical Oncology

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

World Academy of Sciences Journal

World Academy of Sciences Journal

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

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

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Feb 1998 Volume 1 Issue 2

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Article

Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.

  • Authors:
    • B Rautenstrauss
    • T Liehr
    • C Fuchs
    • A Bevot
    • A Bornemann
    • E Postler
    • R Meyermann
    • S Uhlhaas
    • W Friedl
    • R Michaelis
  • View Affiliations / Copyright

    Affiliations: Institut fur Humangenetik, 91054 Erlangen, Germany.
  • Pages: 333-340
    |
    Published online on: February 1, 1998
       https://doi.org/10.3892/ijmm.1.2.333
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Abstract

A 1.5 Mb duplication on chromosome 17p11.2 is typical for the great majority of patients suffering from Charcot-Marie-Tooth type 1A (CMT1A) disease. A female child of 4 years with clinical signs and symptoms of a demyelinating neuropathy was examined for the presence of this duplication. Analysis of MspI polymorphisms in DNA extracted from peripheral blood failed due to homozygosity for probes pVAW409R3a and pEW401HE. Also, no EcoRI/SacI 3.2 kb junction fragment or dosage difference with probe pLR7.8, characteristic of the CMT1A duplication, was found. However, fluorescence in situ hybridization (FISH) analysis with the PMP22 specific probe c132G8 revealed in peripheral blood lymphocytes 60% of interphase nuclei with CMT1A duplication indicating the probability of mosaicism. In interphase nuclei extracted from nerve tissue the duplication was detectable in 88%, in muscle tissue in 72% of the analyzed nuclei. This suggests the presence of a somatic CMT1A duplication mosaicism that can only be reliably detected by FISH. The early onset and severity of the phenotype indicates that the hypothesized somatic reversion is probably fixed to early developmental stages.

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Copy and paste a formatted citation
Spandidos Publications style
Rautenstrauss B, Liehr T, Fuchs C, Bevot A, Bornemann A, Postler E, Meyermann R, Uhlhaas S, Friedl W, Michaelis R, Michaelis R, et al: Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.. Int J Mol Med 1: 333-340, 1998.
APA
Rautenstrauss, B., Liehr, T., Fuchs, C., Bevot, A., Bornemann, A., Postler, E. ... Michaelis, R. (1998). Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.. International Journal of Molecular Medicine, 1, 333-340. https://doi.org/10.3892/ijmm.1.2.333
MLA
Rautenstrauss, B., Liehr, T., Fuchs, C., Bevot, A., Bornemann, A., Postler, E., Meyermann, R., Uhlhaas, S., Friedl, W., Michaelis, R."Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.". International Journal of Molecular Medicine 1.2 (1998): 333-340.
Chicago
Rautenstrauss, B., Liehr, T., Fuchs, C., Bevot, A., Bornemann, A., Postler, E., Meyermann, R., Uhlhaas, S., Friedl, W., Michaelis, R."Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.". International Journal of Molecular Medicine 1, no. 2 (1998): 333-340. https://doi.org/10.3892/ijmm.1.2.333
Copy and paste a formatted citation
x
Spandidos Publications style
Rautenstrauss B, Liehr T, Fuchs C, Bevot A, Bornemann A, Postler E, Meyermann R, Uhlhaas S, Friedl W, Michaelis R, Michaelis R, et al: Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.. Int J Mol Med 1: 333-340, 1998.
APA
Rautenstrauss, B., Liehr, T., Fuchs, C., Bevot, A., Bornemann, A., Postler, E. ... Michaelis, R. (1998). Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.. International Journal of Molecular Medicine, 1, 333-340. https://doi.org/10.3892/ijmm.1.2.333
MLA
Rautenstrauss, B., Liehr, T., Fuchs, C., Bevot, A., Bornemann, A., Postler, E., Meyermann, R., Uhlhaas, S., Friedl, W., Michaelis, R."Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.". International Journal of Molecular Medicine 1.2 (1998): 333-340.
Chicago
Rautenstrauss, B., Liehr, T., Fuchs, C., Bevot, A., Bornemann, A., Postler, E., Meyermann, R., Uhlhaas, S., Friedl, W., Michaelis, R."Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.". International Journal of Molecular Medicine 1, no. 2 (1998): 333-340. https://doi.org/10.3892/ijmm.1.2.333
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