… 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 …

… 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 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)-…

… 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…

… (MKD) is caused by biallelic loss-of-function mutations in MVK, leading to recurrent
fevers and … deficiencies in mevalonate kinase revealed new insights into the genotype-phenotype …

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

… mutations, we highlight the wide spectrum of this disease with a limited genotype–phenotype
correlation… arthritis and partial deficiency of mevalonate kinase were also evocated. Fecal …