Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

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Abstract
Genetic heterogeneity is characteristic of the disease not just because of the large number of genes and loci associated with CMT (currently 21 genes),3– 5 but also because the disease may segregate with different Mendelian patterns. The most frequent pattern of inheritance is autosomal dominant, but autosomal recessive and X linked segregation are also observed.

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