… 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 …

… 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 …

… 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 …

… 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 …

… ], new syndromes and genetic mutations are continuously added to the … hundreds of mutations
that frequently result in a spectrum of … The T237S mutation of our patient has been recently …

… 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…

… 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 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 …

… Mutations in the mevalonate kinase gene have been found in patients with HIDS indicating
… Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. …