Document Detail

An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.
MedLine Citation:
PMID:  10677864     Owner:  NLM     Status:  MEDLINE    
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 polyneuropathy. Since a similar clinical picture has been described in another Italian family, the cardiac involvement must be regarded as a salient and early feature of the TTR Ala-47 mutation.
C Solaro; A Schenone; A Di Sapio; L Pradotto; G L Mancardi; A Primavera; A Mauro
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  10     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2000 Jan 
Date Detail:
Created Date:  2000-03-07     Completed Date:  2000-03-07     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  52-5     Citation Subset:  IM    
Department of Neurological Sciences and Rehabilitation, University of Genoa, Italy.
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MeSH Terms
Base Sequence / genetics
Cardiomyopathies / genetics*
Mutation / genetics*
Polyneuropathies / genetics*,  pathology
Prealbumin / genetics*
Sural Nerve / pathology
Reg. No./Substance:

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