Article
Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Dec 2010
Wang Zhaoxia, Qi Xiao Kun, Yao Sheng, Chen Bin, Luan Xinghua, Zhang Wei, Han Manfu, Yuan Yun
Abstract excerpt
The 13513G>A mutation in the ND5 gene of mitochondrial DNA (mtDNA) is usually associated with mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS), or Leigh syndrome (LS). In this study, we describe three young Chinese patients with MELAS/LS overlap syndrome who carried the m.13513G>A mutation. Clinical and MRI features were characteristic of both MELAS and LS. Interestingly, the...
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