Hendrickx, A.

mutation patient mitochondrial family genet syndrome p.a 467t mutation mtdna polg mutations variant carrier leigh syndrome activity disease leigh analysis protein article dystonia assembly muscle polymerase spastic dystonia recessive table i assembly sequence domain study 20orf failure c 20orf gene cause feature downloaded epilepsy smeet defect netherland jmg.bmj.com genotype –phenotype correlations novel alpers syndrome liver failure parent family details spastic liver disorder sister group.bmj.com c 20orf ataxia .1399g p.g 517v mutation ficiency department brother report compound mtdna deletions zeviani m deletion i activity erasmus mc sodium valproate recessive mutations patient iv 7 p.a 467t mutations substitution van broeckhoven c alper index ophthalmoplegia status epilepticus turnbull dm blood adult valproate j hum genet