Article
Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2021
Yu Xiaolin, Ji Kunqian, Lin Yan, Xu Xuebi, Wang Wei, Li Ying, Lu Jian-Qiang, Zhao Yuying, Yan Chuanzhu
Abstract excerpt
OBJECTIVE: To report a Chinese family with combined m.14459G>A mutation and m.6064A>T mutation of which the female proband presenting unique Leber hereditary optic neuropathy and dystonia (LDYT) overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) phenotype. METHODS: Clinical information of the pedigree was collected. We performed muscle biopsy and whole-length...
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