A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.

doi:10.1136/jmg.31.4.293

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Article

A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.

Journal of medical genetics - 1 Apr 1994

Coelho T, Sousa A, Lourenço E, Ramalheira J

Abstract excerpt

We reviewed 1233 cases of familial amyloidotic polyneuropathy (FAP) from 489 Portuguese families registered at the Centro de Estudos de Paramiloidose, Porto, Portugal. It was found that in 159 cases, neither parent had shown symptoms of this hereditary dominant form of peripheral neuropathy. Thes...

Topics

Adult
Age of Onset
Aged
Amyloid Neuropathies
Female
Gene Expression
Genes, Dominant
Humans
Male
Middle Aged
Mutation
Parents
Pedigree
Portugal
Registries

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