… 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 …

… The autoinflammatory and metabolic disorder mevalonate kinase deficiency (MKD) is … and
biochemical ends of the MKD spectrum. The MVK gene encodes mevalonate kinase (MK), the …

… in protein prenylation in PBMCs (as detected in our assay) seems to correlate with how
severely the mutations affect MK enzyme activity. Because of the rarity of patients with mevalonic …

… spectrum of disease severity. However, for the sake of clarity we will describe the two phenotypes
at the extreme ends of the spectrum… heterozygous mutations in the mevalonate kinase …

… 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 …

… deficiency not only enlarges the disease spectrum, but also underlines the idea that a shortage
of one or more isoprenoids leads to inflammation. Moreover, the finding that mevalonate …

… of mevalonate kinase deficiency is due to missense mutations in … V377I is the common
founder mutation discovered in the … of the spectrum of mevalonate kinase deficiency presenting …

… deficiencies are clinically heterogeneous conditions and lack clear genotype-phenotype
correlations… symptoms and patients with primary CoQ deficiency described in the literature so far …

… of deficiencies in mevalonate kinase and abnormal prenylation mirrored the genotype-phenotype …
recessive inheritance of mutations in MVK (3, 4). This gene encodes MK [ATP:(R)-…