publication . Article . 2017

Familial amyloid polyneuropathy TTR Cys 114 in monozygotic twin brothers (clinical case)

Open Access
  • Published: 01 May 2017 Journal: Neuromuscular Diseases, volume 7, pages 54-61 (issn: 2222-8721, eissn: 2413-0443, Copyright policy)
  • Publisher: Publishing House ABV Press
Abstract
Transthyretin amyloidosis (ATTR) is a hereditary autosomal dominant disease. Its symptoms depend on polymorphisms of the transthyretin gene and include disorders of the peripheral nervous system and internal organs. One of the rarest mutations of the transthyretin gene is tyrosine substitution for cysteine in position 114 (Tyr114Cys). One of the described characteristics of ATTR is the discordant phenotype in monozygotic twins. We present a case of ATTR Cys 114 in a Russian family with a pair of monozygotic twins discordant for ATTR.
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Subjects
Medical Subject Headings: nutritional and metabolic diseasesmacromolecular substances
free text keywords: transthyretin amyloidosis, attr cys 114, familial amyloid polyneuropathy, monozygotic twins, discordance, nongenetic factors, Autosomal dominant trait, Biology, Endocrinology, medicine.medical_specialty, medicine, Peripheral nervous system, medicine.anatomical_structure, Cysteine, Amyloidosis, medicine.disease, Genetics, Transthyretin, biology.protein, Internal medicine, Tyrosine, lcsh:Neurology. Diseases of the nervous system, lcsh:RC346-429
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