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- W2063670394 abstract "Hereditary neuropathies, classified in HMSN I-VII by Dyck, belong to the more common hereditary neurological diseases. The most frequent form HMSN I, also called CMT1 (Charcot-Marie-Tooth disease), is genetically heterogeneous and is mapped to three different chromosomes. Most of the CMT1 cases map to Chromosom 17, are autosomal dominant inherited, and are named CMT1a. In nearly all CMTla patients a duplication of chromosome band 17p11 has been demonstrated. In the animal model for CMT1, the trembler mouse, a point mutation in a new peripheral myelin protein, pmp22, has been found and suggested to cause the trembler phenotype. Very recently it has been demonstrated that this new peripheral myelin protein is duplicated in CMT1a patients. This opens up the possibility of a molecular test for CMT1a, discussed in this paper, which is especially interesting in spontaneous cases of CMT1." @default.
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- W2063670394 date "1992-12-01" @default.
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- W2063670394 title "Molekularbiologische Aspekte der Pathogenese und Diagnostik bei der Charcot-Marie-Tooth-Neuropathie" @default.
- W2063670394 doi "https://doi.org/10.1055/s-2007-1018066" @default.
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