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OR11-001 - Protein misfolding in mevalonate kinase deficiency

✍ Scribed by S Stojanov,SW Gersting,L Reitzle,D Reiß,BH Belohradsky…


Book ID
126376487
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
101 KB
Volume
11
Category
Article
ISSN
1546-0096

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## Communicated by Johannes Zschocke Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK). Depending on the clinical severity, MKD may present as hyper-IgD and periodic fe