Coo, I.F.M. de

mutation patient mitochondrial syndrome analysis protein mtdna disease genet muscle study subunit sequence deletion brain table family activity defect group control fragment carrier cause netherland disorder result level mitochondrial dna blood mitochondria chromosome deficiency region ndufv phenotype subject seizure leigh syndrome leigh i activity erasmus mc function expression department creatine abnormality oxpho neurol treatment i deficiency heterotopia development diagnosis erasmu change ficiency oocyte coo ifm genome chain method number periventricular epilepsy oxidative university assembly enzyme genetic smeet month article t 2dm patients downloaded nucleotide neuropathy variant rotterdam position