A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options

A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options

Abstract Background Hereditary amyloidosis refers to a wide spectrum of rare diseases with different causative mutations in the genes of various proteins including transthyretin, apolipoprotein AI and AII, gelsolin, lysozyme, cystatin C, fibrinogen Aα-chain, β2-microglobulin, apolipoprotein CII and...

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Main Authors: Myrto Moutafi, Dimitrios C. Ziogas, Spyros Michopoulos, Tina Bagratuni, Vassiliki Vasileiou, Laura Verga, Giampaolo Merlini, Giovanni Palladini, Charis Matsouka, Meletios A. Dimopoulos, Efstathios Kastritis
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Medical Genetics
Subjects:
Rare autosomal disease
ApoAI amyloidosis
Liver
Immune-electron microscopy
Online Access:http://link.springer.com/article/10.1186/s12881-019-0755-5

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http://link.springer.com/article/10.1186/s12881-019-0755-5

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