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

Sodium dependent multivitamin transporter (SMVT) deficiency is a very rare autosomal recessive disorder characterized by multisystemic clinical manifestations due to combined biotin, panthotenic acid and lipoic acid deficiency. About 10 families have been described so far. Accurate diagnosis is cruc...

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Autores principales:	Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Benoît Funalot, Isabelle Desguerre
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2024-01-01
Colección:	Frontiers in Genetics
Materias:	multivitamin deficiency intronic variation splicing recurrent mixed neuropathy optic atrophy
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1352006/full
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