Associated Papers
Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.
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Orphanet Journal of Rare Diseases, 2026
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation.
Houten SM et al.
Cellular and Molecular Life Sciences : Cmls, 2003
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten SM et al.
Nature Genetics, 1999
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