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Research paper
Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas
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Other responses

  • Published on:
    Re: A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: Upper limp onset of symptoms
    • Erdi Sahin, erdisahin@gmail.com
    • Other Contributors:
      • Arman Cakar, Hacer Durmus-Tekce, Yesim Parman

    Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by the mutations of the transthyretin (TTR) gene. The mutant amyloidogenic TTR protein causes systemic accumulation of amyloid fibrils that result in organ dysfunction [1]. Over 100 mutations in TTR gene are associated with the disease but still, the first identified Val30Met mutation make up 50% of the cases worldwide....

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    Conflict of Interest:
    None declared.