A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation
Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy a...
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| Principais autores: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2016-11-01
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| coleção: | Frontiers in Neurology |
| Assuntos: | |
| Acesso em linha: | http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00185/full |
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