The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilate...

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Detalles Bibliográficos
Autores principales: Park, Kyoung-Jin, Park, Jong-Ho, Park, June-Hee, Cho, Eun Bin, Kim, Byoung Joon, Kim, Jong-Won
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773268/
https://www.ncbi.nlm.nih.gov/pubmed/26915616
http://dx.doi.org/10.3343/alm.2016.36.3.259

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773268/
https://www.ncbi.nlm.nih.gov/pubmed/26915616
http://dx.doi.org/10.3343/alm.2016.36.3.259

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