Article
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
Clinical genetics - 1 Dec 2006
Casasnovas C, Banchs I, Corral J, Martínez-Matos J A, Volpini V
Abstract excerpt
From 1995 to 2004, 979 families with hereditary peripheral neuropathy were referred to the Genetic Diagnosis Center. Using single-strand conformation analysis (SSCA), the connexin 32 gene was analysed in all the patients from 498 families with sporadic or dominant inheritance with no male-to-male transmission and absence of the 17p2 duplication or deletion. Affected males had pes cavus, distal leg weakness,...
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