… (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 …

… ], 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 …

… 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…

… domains, genotype–phenotype correlations are beginning to be … and mevalonate kinase
(MVK) are associated with a spectrum … ) and a novel Thr274Met mutation in PSTPIP1 have been …

… 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 …

… ), mevalonate kinase deficiency (MKD), Blau syndrome, … the generally accepted
genotype-phenotype correlation of 50% … due to the methodology of mutation analysis with …

… Mevalonate kinase deficiency (MKD) is a rare autosomal recessive metabolic disorder caused
by mutation of the mevalonate kinase (… of age with a spectrum of disorders ranging from …

… ) caused by a variant in the mevalonate kinase (MVK) gene, … the genotype–phenotype
relationship has increased, but the … literature for cases carrying this mutation. It was evaluated in …

… -of-function mutations in the mevalonate kinase gene (MVK), … A web-based collection of
genotype-phenotype associations … in a spectrum of patients with mevalonate kinase deficiency. …

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