Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report

BACKGROUND: Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutations have been reported with various geographic distributi...

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Detalhes bibliográficos
Publicado no:J Med Case Rep
Main Authors: Terrier, Benjamin, Colombat, Magali, Beugnet, Caroline, Quéant, Astrid, London, Jonathan, Daudin, Jean-Baptiste, Le Jeunne, Claire, Mouthon, Luc, Monnet, Dominique, Cauquil, Cécile, Lacroix, Catherine, Adams, David, Brézin, Antoine, Valleix, Sophie
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5554541/
https://ncbi.nlm.nih.gov/pubmed/28802308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-017-1407-z
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