… mutational spectrum of MKD to 63 mutations. To get more insight into the genotype–phenotype
correlation in MKD, we studied the effect of selected missense mutations on MK protein …

… 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 …

… 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…

… groups independently identified mevalonate kinase deficiency, due to mutations in MVK, as
… Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency …

… are both due to mutations in the mevalonate kinase (MVK) gene… by severe mevalonate kinase
deficiency with perinatal onset. … mevalonate kinase deficiency causes the wide spectrum of …

… 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 …