Bierau, J.

mutation patient activity itpase itpase activity control muscle horse table p.a 467t mutation protein carrier polg mutations mitochondrial variant population enzyme creatine metabolism family control horses disease netherland 0.01 study polymerase effect genotype recessive domain oxidative phosphorylation failure feature myopathy epilepsy syndrome itpa genotype reference nucleoside analogues nucleoside sample erythrocyte oxidative genotype –phenotype correlations analogue novel alpers syndrome liver failure uric acid family details phosphorylation liver sister genet ficiency mtdna result ataxia .1399g p.g 517v mutation glycogen equine sequence compound mtdna deletions zeviani m deletion concentration allele frequencies control population sodium valproate recessive mutations inosine van der kolk p.a 467t mutations van broeckhoven c erythrocyte itpase activity alper index ophthalmoplegia