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Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy
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Colonic transit time in mentally retarded persons
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- Journal Article
- A2
- open access
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
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Digenic progressive external ophthalmoplegiain a sporadic patient: recessive mutationsin POLG and C10orf2/Twinkle
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Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions