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- W2473764117 abstract "Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy, affecting at least 1 in 2500 individuals. Charcot-Marie-Tooth disease represents a heterogeneous collection of disorders of the peripheral nerve. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked trait, and, in addition, isolated cases occur. The autosomal dominant segregation pattern is the most frequently observed, and recent molecular studies have identified an exciting novel mutational mechanism for this form—the CMT1A duplication. It is intriguing that, for one of the most common dominant disorders affecting humans, there is no mutant gene involved in the majority of cases. Instead, the disease phenotype results from having three copies of a normal non-mutated gene or a gene dosage effect secondary to an inherited or de novo DNA duplication. Furthermore, an intrinsic structural property of the human genome, a repeat sequence (CMT1A-REP) flanking the duplicated region, acts as a substrate for homologous recombination and an unequal crossover event. This recombination between misaligned flanking CMT1A-REP repeats appears to have a sex predilection and to occur preferentially during male gametogenesis. The identification of the CMT1A duplication has potent implications for clinical diagnosis, clinical management with respect to prognosis, counseling regarding recurrence risk, and the rational design of therapy geared at normalizing the levels of gene expression." @default.
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- W2473764117 date "1998-01-01" @default.
- W2473764117 modified "2023-09-24" @default.
- W2473764117 title "Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies" @default.
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- W2473764117 doi "https://doi.org/10.1007/978-1-59259-726-0_101" @default.
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