Associated Papers
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Rehbein T et al.
Brain : a Journal of Neurology, 2023
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
Yger M et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
Lupo V et al.
Human Molecular Genetics, 2009
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Senderek J et al.
American Journal of Human Genetics, 2003
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