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American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Brain : a Journal of Neurology|May 23, 2006
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2Kristien Verhoeven, Kristl G Claeys, Stephan Züchner, et al.
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