[Clinical and genetic heterogeneity in familial amyloidotic polyneuropathy associated with variant transthyretin].

Article

[Clinical and genetic heterogeneity in familial amyloidotic polyneuropathy associated with variant transthyretin].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Takahashi N, Ueno S

Abstract excerpt

Familial amyloid polyneuropathy (FAP) is an autosomal disease, usually associated with a variant of transthyretin (TTR). To date, about 30 variants of TTR have been described in FAP. Clinical heterogeneity regarding age of onset and organ involvement exists in TTR-related FAP. The age of onset in...

Topics

Adult
Age Factors
Age of Onset
Amyloid Neuropathies
Female
Humans
Male
Middle Aged
Mutation
Prealbumin
Sex Factors

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