Familial amyloid polyneuropathy TTR Cys 114 in monozygotic twin brothers (clinical case)
https://doi.org/10.17650/2222-8721-2017-7-1-54-61
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.
About the Authors
M. O. Kovalchuk
University Medical Center Utrecht
Netherlands
Utrecht, Netherlands
Netherlands
Utrecht, Netherlands
I. A. Strokov
I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia
Russian Federation
Build. 2, 8 Trubetskaya St., Moscow 119991, Russia
Russian Federation
Build. 2, 8 Trubetskaya St., Moscow 119991, Russia
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Review
For citations:
Kovalchuk M.O., Strokov I.A. Familial amyloid polyneuropathy TTR Cys 114 in monozygotic twin brothers (clinical case). Neuromuscular Diseases. 2017;7(1):54-61. (In Russ.) https://doi.org/10.17650/2222-8721-2017-7-1-54-61
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