Article
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
Human genetics - 1 Sept 1997
Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, Savontaus M L
Abstract excerpt
The X-linked dominant form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in a gene coding for the gap-junction protein connexin 32 (Cx32). We screened 32 CMT families with a pedigree pattern suggestive of X-linked inheritance for the presence of mutations in the coding region of Cx32 by direct sequencing. Five of the families had a CMT1 diagnosis, 24 had a CMT2 diagnosis and 3 patients had an...
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