Article
Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.
Journal of child neurology - 1 Mar 1996
Ouvrier R
Abstract excerpt
In recent years, there have been remarkable advances in the understanding of the molecular genetic basis of the hereditary polyneuropathies. Linkage of the genes for Charcot-Marie-Tooth disease to chromosomes 1 and then 17 was followed by the discovery that the commonest form of Charcot-Marie-Tooth disease (CMT1A) was due to a duplication of DNA at 17p11.2-12. This duplication was shown to contain the gene for...
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