Concepedia

Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

Emmanuel Scalais, Baudouin François, Patrick Schlesser, René Stevens, C. Nuttin, Jean‐Jacques Martin, Rudy Van Coster, Sara Seneca, Frank Roels, Gert Van Goethem,

European Journal of Paediatric Neurology · 2012 · 26 citations · 34 references

DOI

Concepts

References

34

Case report 3

Murray K. Dalinka, R. E. Brennan, Arthur S. Patchefsky · Skeletal Radiology · 1976 · 4.1K citations

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Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano · Science · 1999 · 892 citations

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel et al. · Nature Genetics · 2001 · 614 citations

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mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Carlos T. Moraes, Sara Shanske, Hans Tritschler et al. · PubMed · 1991 · 590 citations

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Hanna Mandel, Raymonde Szargel, Valentina Labay et al. · Nature Genetics · 2001 · 582 citations

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