Estelle Arnaud Gouttenoire; Lupo,V; Calpena-Corpas, Eduardo; Luca Bartesaghi; Fanny Schüpfer; Jean-Jacques Médard; Fabienne Maurer; Jacques S Beckmann; Jan Senderek; Palau, Francesc; Espinós-Armero, Carmen Ángeles; Roman Chrast(John Wiley & Sons, 2013-07)
[EN] Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral ...