Transthyretin Thr60Ala Appalachian-type mutation in a Japanese family with familial amyloidotic polyneuropathy

Amyloid

Volumn 9, Issue 1, 2002, Pages 31-34

  Kotani, Nobuhiro ^a   Hattori, Takeshi ^a   Yamagata, Shingo ^a   Tokuda, Takahiko ^a   Shirasawa, Akira ^a   Yamaguchi, Shuhei ^a   Kobayashi, Shotai ^a   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Cardiomyopathy; DNA sequencing; Familial amyloidotic polyneuropathy; MALDI TOF MS; Thr60Ala; Transthyretin

Indexed keywords

PREALBUMIN;

AGED; AMYLOID NEUROPATHY; ARTICLE; AUTONOMIC DYSFUNCTION; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; JAPAN; PRIORITY JOURNAL; RESTRICTIVE CARDIOMYOPATHY; SENSORIMOTOR FUNCTION;

EID: 0036128927     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.3109/13506120209072442     Document Type: Article

References (10)

1. Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy
2. Tabulation of transthyretin (TTR) variants as of 1/1/2000
3. Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis
4. Hereditary amyloidosis: Description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid
5. Transthyretin amyloidosis
6. Identification of a novel transthyretin variant (Val30-Leu) associated with familial amyloidotic polyneuropathy
7. Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
8. Familial amyloid polyneuropathy: Alanine-for-threonine substitution in the transthyretin (prealbumin) molecule
9. Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant
10. Haplotype analysis of His58, Ala60, and Tyr77 types of familial amyloidotic polyneuropathy