Article
Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report.
Journal of medical case reports - 13 Aug 2017
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
Abstract excerpt
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 distributions and associated with a wide range of phenotypes involving the peripheral nerve, the heart, the gastrointestinal...
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