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Neuromolecular Med. 2014 Mar;16(1):119-26. doi: 10.1007/s12017-013-8264-8. Epub 2013 Sep 24.

Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome.

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1
Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital, Shandong University, No. 107, West Wenhua Road, Jinan, 250012, China.

Abstract

We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the fourth subunit of the NADH dehydrogenase gene (MTND4). Additional to G11778A mutation, a novel C15620A variant was detected, which resulted in the conversion from leucine to isoleucine in the mitochondrial cytochrome b gene. As G11778A mutation is the most common mutation associated with Leber's hereditary optic neuropathy (LHON), given the unusual phenotype, the C15620A mutation was postulated to influence the pathogenicity of the G11778A mutation. This case further expands the clinical spectrum associated with the primary G11778A LHON mutation.

PMID:
24062162
DOI:
10.1007/s12017-013-8264-8
[Indexed for MEDLINE]
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