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Abstract. We previously reported familial cases characterized by Charcot-Marie-Tooth disease (CMT) phenotype with abnormal myelin foldings and MPZ Ile62Phe mutation. To further clarify the molecular mechanisms in this family, we produced wild-type MPZ, Ile62Phe mutant and other mutations in the neighboring regions producing thin myelin sheaths (Ser63del, Ser63Cys and Ser63Phe) by site-specific mutagenesis...
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