Associated Papers
Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C.
Duan X et al.
Frontiers in Neurology, 2021
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
Stendel C et al.
Brain : a Journal of Neurology, 2010
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.
Roberts RC et al.
Human Molecular Genetics, 2010
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
Gosselin I et al.
Neuromuscular Disorders : Nmd, 2008
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