A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report

INTRODUCTION: Familial amyloid polyneuropathy is a rare autosomal dominant disorder caused by mutations in the transthyretin gene, TTR. Diagnosis can be challenging, especially if other family members are not affected or an obvious systemic involvement is lacking. The patients are often misdiagnosed...

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Detalles Bibliográficos
Autores principales: Schänzer, Anne, Kimmich, Christoph, Röcken, Christoph, Haverkamp, Thomas, Weidner, Isabell, Acker, Till, Krämer, Heidrun H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289209/
https://www.ncbi.nlm.nih.gov/pubmed/25471118
http://dx.doi.org/10.1186/1752-1947-8-403

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289209/
https://www.ncbi.nlm.nih.gov/pubmed/25471118
http://dx.doi.org/10.1186/1752-1947-8-403

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