A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
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DOI: 10.1038/s41598-021-90196-5
Abstract: Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial deficiency. m.14597A>G (p.Ile26Thr) in the MT-ND6 gene was reported to cause Leberʼs hereditary optic neuropathy (LHON) or dementia/dysarthria. In previous reports, less than… read more here.
Keywords: high mutation; leigh syndrome; load 14597a; mutation load ... See more keywords