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Article

An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.

Neuromuscular disorders : NMD - 1 Jan 2000

Solaro C, Schenone A, Di Sapio A, Pradotto L, Mancardi G L, Primavera A, Mauro A

Abstract excerpt

We describe two Italian first cousins with familial amyloidotic polyneuropathy associated with transthyretin variant consisting of the substitution of alanine for glycine at codon 47 (TTR Ala-47), from a family with a history of cardiac failure. The 40-year-old patient presented with autonomic dysfunction and the 44-year-old cousin with congestive heart failure. Both developed sensorimotor and autonomic...

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Identifiers

PMID: 10677864
DOI: 10.1016/s0960-8966(99)00062-0

Genes

TTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.PMID 10677864Read ↗

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