A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
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 90% he...
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| Autores principales: | , , , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
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Nature Portfolio
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/2a76a814c3ba4c25adefbc26eb47bb7d |
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