Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro).

Abstract:

:We report a family with familial amyloid polyneuropathy (FAP), showing an early-onset and a fatal outcome before age 30. Transthyretin (TTR) gene analysis showed one point mutation (T-->C change) in the second base of codon 55, and the corresponding amino acid substitution of proline (Pro) for leucine (Leu) was confirmed at the protein level. This is the first FAP family of Taiwanese origin demonstrating a causative gene abnormality, and FAP with TTR-Pro55 was considered to be more serious compared with other forms of FAP.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Yamamoto K,Hsu SP,Yoshida K,Ikeda S,Nakazato M,Shiomi K,Cheng SY,Furihata K,Ueno I,Yanagisawa N

doi

10.1002/mus.880170611

subject

Has Abstract

pub_date

1994-06-01 00:00:00

pages

637-41

issue

6

eissn

0148-639X

issn

1097-4598

journal_volume

17

pub_type

杂志文章
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  • On the nature of endogenous antiexcitatory factors in the cerebrospinal fluid of patients with demyelinating neurological disease.

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    doi:10.1002/(SICI)1097-4598(199601)19:1<54::AID-MUS7>3

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    pub_type: 杂志文章

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  • The thoracic outlet syndromes.

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  • Comparing the function of the corticospinal system in different species: organizational differences for motor specialization?

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