Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy “in disguise”

Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur from the second to over sixth decade of life with a length-dependent axonal neuropathy with prominent involvement of the small fibers and mul...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Grandis, Marina, Geroldi, Alessandro, Gulli, Rossella, Manganelli, Fiore, Gotta, Fabio, Lamp, Merit, Origone, Paola, Trevisan, Lucia, Gemelli, Chiara, Fabbri, Sabrina, Schenone, Angelo, Tozza, Stefano, Santoro, Lucio, Bellone, Emilia, Mandich, Paola
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Letter to the Editor
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6172830/
https://ncbi.nlm.nih.gov/pubmed/30286783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0917-0
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