… by pathogenic mutations in the mevalonate kinase gene (MVK… Given the wide spectrum of
phenotypes associated with MVK … to identify clearer genotype–phenotype correlations after the …

… mutational spectrum … (mevalonate kinase deficiency [MKD]), two mutations are inherited
from each parent (biallelic). In the localized skin porokeratosis form, the two (or more) mutations …

… disorder mevalonate kinase deficiency … defect for both conditions [4,5], however, they are
considered to represent the mild and severe clinical and biochemical ends of the MKD spectrum…

… D, PMVK genomic DNA (gDNA) and 2-dimensional protein structure with the location of the
mutation highlighted. For the gDNA, the … Mevalonate kinase deficiency and autoinflammation …

… Out of nine patients genetically evaluated in our study, five patients from four unrelated
families had V377I mutation (rs28934897) along with splice site mutation c.226+2delT and one …

… Mevalonate kinase deficiency (MKD) is an autoinflammatory … activity of the encoded enzyme
mevalonate kinase (MK). MK is … mild and the severe phenotypes of the MKD spectrum (11). …

… enzymatic deficiency of the mevalonate kinase enzyme (MVK) due to several possible
mutations in the Mvk gene. MKD presents as a continuous spectrum of phenotypic manifestations …

… Nowadays, mevalonate kinase deficiency (MKD) is considered a disease spectrum that
ranges from the milder affected MKD-HIDS patients to the severely affected MKD-MA patients (10…

… a partial deficiency results in a broad spectrum of … mutations in the phosphomevalonate
kinase (PMVK) gene coding the second enzyme after mevalonate kinase in the mevalonate …

… Mevalonate kinase deficiency (MKD) is a rare autosomal recessive metabolic disorder caused
by mutation of the mevalonate kinase … spectrum of disorders ranging from severe to milder …