Bosch, B.J. van den

mutation patient mitochondrial syndrome carrier acad 9 activity genet ficiency protein family melas syndrome i activity disease p.a 467t mutation study assembly function mtdna muscle leigh syndrome analysis fi bers polg mutations leigh variant i assembly table article sequence abnormality cause disorder downloaded polymerase flavin control netherland recessive wild-type acad 9 substitution subunit domain 20orf value failure c 20orf gene feature systolic diastolic defect epilepsy wild-type ribo flavin department adult region jmg.bmj.com genotype –phenotype correlations novel alpers syndrome liver failure parent family details tissue liver sister exercise group.bmj.com smeet effect systolic lv function c 20orf ataxia oxidative .1399g p.g 517v mutation doppler broblast phosphorylation