Article
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.
Neuromuscular disorders : NMD - 1 Aug 2018
Arntzen Kjell Arne, Høyer Helle, Ørstavik Kristin, Tallaksen Chantal, Vedeler Christian, Østern Rune, Nebuchennykh Maria, Braathen Geir Julius, Fagerheim Toril
Abstract excerpt
Autosomal recessive Charcot-Marie-Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the SH3TC2 gene, causing recessive demyelinating CMT type 4C have been found in several Norwegian CMT patients over the last years. We aimed to estimate a minimum prevalence and to study the genotypic and phenotypic variability of CMT4C in Norway. Patients were...
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