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pubmed-article:14755500pubmed:abstractTextWe describe a patient with transthyretin amyloidosis who presented with multifocal mononeuropathies with features of demyelination on nerve conduction studies, a constellation of findings not previously described in amyloid polyneuropathy. Genetic testing revealed a valine122isoleucine mutation in the coding region of the transthyretin gene, a mutation that generally presents with late-onset cardiac amyloidosis. Our patient was also unusual in that she was 34 years old at the time of presentation and had no cardiac involvement.lld:pubmed
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pubmed-article:14755500pubmed:authorpubmed-author:AmatoAnthony...lld:pubmed
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pubmed-article:14755500pubmed:dateRevised2004-11-17lld:pubmed
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pubmed-article:14755500pubmed:articleTitleTransthyretin amyloidosis presenting with multifocal demyelinating mononeuropathies.lld:pubmed
pubmed-article:14755500pubmed:affiliationDepartment of Neurology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., Boston Massachusetts 02115, USA. briemberg@partners.orglld:pubmed
pubmed-article:14755500pubmed:publicationTypeJournal Articlelld:pubmed
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