Pathogenic mtDNA mutations causing mitochondrial myopathy: the need for muscle biopsy

Pathogenic mtDNA mutations causing mitochondrial myopathy: the need for muscle biopsy

Pathogenic mitochondrial tRNA (mt-tRNA) gene mutations represent a prominent cause of primary mitochondrial DNA (mtDNA)-related disease despite accounting for only 5%-10% of the mitochondrial genome.(1,2) Although some common mt-tRNA mutations, such as the m.3243A>G mutation, exist, the major...

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Үндсэн зохиолчид: Hardy, S, Blakely, E, Purvis, A, Rocha, M, Ahmed, S, Falkous, G, Poulton, J, Rose, M, O'Mahony, O, Bermingham, N, Dougan, C, Ng, Y, Horvath, R, Turnbull, D, Gorman, G, Taylor, R
Формат: Journal article
Хэл сонгох:English
Хэвлэсэн: American Academy of Neurology 2016

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