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Naročanje gradiva za izposojo na dom
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  • Bolezen Charcot-Marie-Tooth = Charcot-Marie-Tooth disease
    Leonardis, Lea ; Zidar, Janez ; Peterlin, Borut, 1963-
    Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, ... electrophysiological signs andmolecular genetic studies. CMT is classified as demyelinative and axonal type and distal motor neuronopathy. Conclusions. CMT can be of autosomal dominant, recessive and X-linked inheritance. The most frequent form of CMT isthe result of the dominantly inherited duplication of chromosome 17p11.2 andis marked as CMT1A. The same group involves also rare patients with point mutation in the peripheral myelin protein-22 gene. CMTIB is associated with point mutations in protein zero gene. CMTI C is linked to chromosome IGp13.1-12.,3. Patients with point mutations in early growth response 2 gene (EGR2) are included in group CMT1D. The disease can be also inhereted X-linked(CMTX) with the mutations in connexin-32 gene. In autosomal recessive inherited demyelinating polyneuropathies (CMT4), mutations are found in the myotubularin-related protein-2 (CMT4B), N-myc downstream-regulated gene 1 (CMT4D), EGR2 (CMT4E), and in theperiaksin (CMT4F)genes. In axonal inherited neuropathy, mutations are found in KIFI beta (CMT2A) and in light neurofilament (CMT2E) genes, other forms map to different chromosomal loci (CMT2B, CMT2D, CMT2F). Some suggestions for the diagnostic procedures of patients with CMT are given.
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 72, št. 9, sep. 2003, str. 519-526)
    Vrsta gradiva - članek, sestavni del
    Leto - 2003
    Jezik - slovenski
    COBISS.SI-ID - 16996569

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    Digitalna knjižnica Slovenije - dLib.si

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