Verdijk, R.M.

mutation muscle patient disease pompe disease pompe sco 2 mutation ficiency filamin cytochrome c oxidase sco 2 gene heart enzyme replacement therapy netherland fatigue melanoma protein rotterdam heterotopia sco 2 protein e 140k mutation sco 2 mutations erasmus mc university department tumor periventricular acid maltase report enzyme change cardiomyopathy jaksch staining periventricular heterotopia cause erasmu involvement erasmus mc function hypertrophic cardiomyopathy genetics part muscle biopsy copper vesela van den berg lysosomal novel oxidase phenotype onset therapy cytochrome oncocytic aneurysm compound glycogen index patient brain compound heterozygotes 36x nonsense mutation storage journal center neurol hypertrophic genetic activity van doorn pa university blood papadopoulou uveal genet color fi gure mitochondrial assembly shoubridge ea sco 2 liver maltase