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Clinically affected;no family history;onset of dilated cardiomyopathy at birth;neutropenia;growth retardation;skeletal muscle weakness;several infections;cholesterol at >1 year of age was 95 mg/dl (LDL 41);normal carnitine;3-methylglutaconate in plasma is 2594 nmol/l and in urine is 106;muscle biopsy showed abnormal mitochondria;donor subject is hemizygous for a donor splice site mutation in the TAZ (G4.5) gene: IVS1+5G>A
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