Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70.

doi:10.1212/wnl.42.11.2094

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Article

Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70.

Neurology - 1 Nov 1992

Izumoto S, Younger D, Hays A P, Martone R L, Smith R T, Herbert J

Abstract excerpt

We report familial amyloidotic polyneuropathy in a pedigree of German ancestry residing in New Jersey. Eight affected subjects presented in the third to seventh decade with carpal tunnel syndrome (CTS) and one subject presented with vitreous opacification. Transmission was autosomal dominant and...

Topics

Adult
Aged
Amyloid
Amyloidosis
Asparagine
Base Sequence
Carpal Tunnel Syndrome
DNA
Female
Humans
Immunohistochemistry
Male
Middle Aged
Molecular Sequence Data
Mutation
Nervous System Diseases
Neural Conduction
Pedigree

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