Recurrent « outsider » intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

Mansour-Hendili L, Gitiaux C, Harion M, Latouche C, Heron B, Stojkovic T, Rama M, Smol T, Sophie Jourdain A, Mention K, Nadjar Y, Schiff M, Lemale J, Ghoumid J, Gottrand F, Talbotec C, Rotig A, Funalot B, Desguerre I

Frontiers in Genetics