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, Rötig A, Funalot B, Desguerre I.
Mansour-Hendili L, et al. Among authors: lemale j.
Front Genet. 2024 Jan 29;15:1352006. doi: 10.3389/fgene.2024.1352006. eCollection 2024.
Front Genet. 2024.
PMID: 38348452
Free PMC article.