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Article

Striking pathology in Leigh syndrome associated with the MTATP6 T8993G mutation.

Pediatric neurology - 1 Oct 2014

Sinko Gabriella, Garzuly Ferenc, Kalman Bernadette

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Identifiers

PMID: 25152966
DOI: 10.1016/j.pediatrneurol.2014.07.015

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Striking pathology in Leigh syndrome associated with the MTATP6 T8993G mutation.PMID 25152966Read ↗

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Molecular basis of Leigh syndrome: a current look.Semantic proximity Read ↗

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.Semantic proximity Read ↗

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.Semantic proximity Read ↗

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.Semantic proximity Read ↗

Adult-onset Leigh syndrome with central fever and peripheral neuropathy due to mitochondrial 9176T>C mutation.Semantic proximity Read ↗

Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.Semantic proximity Read ↗

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