Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1998366 | Molecular Genetics and Metabolism | 2011 | 8 Pages |
Abstract
Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations.
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Authors
Gary Fruhman, Megan L. Landsverk, Timothy E. Lotze, Jill V. Hunter, Michael F. Wangler, Adekunle M. Adesina, Lee-Jun C. Wong, Fernando Scaglia,