Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.

doi:10.1212/wnl.44.2.315

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Article

Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.

Neurology - 1 Feb 1994

Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M

Abstract excerpt

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...

Topics

Aged
Amino Acid Sequence
Amyloid
Base Sequence
Carpal Tunnel Syndrome
DNA
DNA Primers
Exons
Female
Genetic Variation
Histidine
Humans
Japan
Male
Molecular Sequence Data
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic

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