… 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 …

… Mevalonate kinase deficiency (MKD) is a very rare, autosomal … by mutations in the gene
encoding mevalonate kinase (MVK) leading to reduced or deficient activity of mevalonate kinase…

… identified mutation. Citation12 There is some degree of genotype–phenotype correlation
within MKD; however, this notion is confounded by the variable nature of disease spectrum, and …

… 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 …

… Mutations in MVK gene are associated with MKD with modest genotype–phenotype correlation…
of genetic variants modulating the complex phenotypic spectrum of MKD, we suggest that …

… Other mutations have been described in patients with HIDS and MA without a reliable
genotype/phenotype correlation (13), although patients carrying the same mutation often exhibit …

… 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 …

… Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory syndrome
caused by deleterious mutations in the mevalonate kinase … a continuous spectrum of clinical …

… 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 …