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Affected males had pes cavus, distal leg weakness, muscular distal atrophy, areflexia and distal sensory loss. The 106 families in which SSCA revealed abnormal migration electrophoresis were directly sequenced. We found 34 families (59 patients) with mutations in connexin 32 gene. In electrophysiological studies, 58.8% families presented slow and 14.7% intermediate nerve conduction velocities. Molecular findings revealed that codon 164 (29.4 \u00b1 15.3%) and the second extracellular (EC2) domain (44.1 \u00b1 16.6%) were the most frequently affected codon and domain of the connexin 32. Six novel mutations, Leu39fs, Glu47Gly, His153fs, Cys179Tyr, Cys201Phe and Ser211fs, were found in our study.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00724.x","type":"journal-article","created":{"date-parts":[[2006,11,10]],"date-time":"2006-11-10T13:47:00Z","timestamp":1163166420000},"page":"516-523","source":"Crossref","is-referenced-by-count":17,"title":["Clinical and molecular analysis of X\u2010linked Charcot\u2010Marie\u2010Tooth disease type 1 in Spanish 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