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Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration..
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Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome..
J Lipid Res
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Mutations in the assembly factor NDUFAF1 are a novel cause of mitochondrial Complex I deficiency.
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Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma..
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