|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
1994-3-17
|
|
pubmed:abstractText |
We studied two patients from a Japanese family with carpal tunnel syndrome (CTS). The biopsy samples obtained during CTS surgical release revealed deposits of amyloid that stained with antihuman transthyretin (TTR) antiserum. Single-strand conformation polymorphism analysis and sequence analysis of polymerase chain reaction (PCR)-amplified exons of the proband's TTR gene revealed a point mutation resulting in a substitution of histidine for tyrosine at position 114. The mutation was confirmed by PCR-primer-induced restriction analysis. Our findings account for clinical heterogeneity of TTR-derived amyloidosis, and suggest the importance of substitution itself for deposits of amyloid in CTS.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Feb
|
|
pubmed:issn |
0028-3878
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
44
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
315-8
|
|
pubmed:dateRevised |
2008-11-21
|
|
pubmed:meshHeading |
pubmed-meshheading:8309582-Aged,
pubmed-meshheading:8309582-Amino Acid Sequence,
pubmed-meshheading:8309582-Amyloid,
pubmed-meshheading:8309582-Base Sequence,
pubmed-meshheading:8309582-Carpal Tunnel Syndrome,
pubmed-meshheading:8309582-DNA,
pubmed-meshheading:8309582-DNA Primers,
pubmed-meshheading:8309582-Exons,
pubmed-meshheading:8309582-Female,
pubmed-meshheading:8309582-Genetic Variation,
pubmed-meshheading:8309582-Histidine,
pubmed-meshheading:8309582-Humans,
pubmed-meshheading:8309582-Japan,
pubmed-meshheading:8309582-Male,
pubmed-meshheading:8309582-Molecular Sequence Data,
pubmed-meshheading:8309582-Point Mutation,
pubmed-meshheading:8309582-Polymerase Chain Reaction,
pubmed-meshheading:8309582-Polymorphism, Genetic,
pubmed-meshheading:8309582-Prealbumin,
pubmed-meshheading:8309582-Restriction Mapping,
pubmed-meshheading:8309582-Tyrosine
|
|
pubmed:year |
1994
|
|
pubmed:articleTitle |
Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.
|
|
pubmed:affiliation |
First Department of Internal Medicine, Kumamoto University School of Medicine, Japan.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
