A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

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 90% heteroplasm...

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Publicado no:Sci Rep
Main Authors: Kishita, Yoshihito, Ishikawa, Kaori, Nakada, Kazuto, Hayashi, Jun-Ichi, Fushimi, Takuya, Shimura, Masaru, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8160132/
https://ncbi.nlm.nih.gov/pubmed/34045482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-90196-5
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