Article
Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.
Journal of child neurology - 1 Aug 2014
Paquay Stéphanie, Benoit Valérie, Wetzburger Catherine, Cordonnier Monique, Meire Françoise, Charon Anne, Roland Dominique, Van Coster Rudy, Nassogne Marie-Cécile, Maystadt Isabelle
Abstract excerpt
Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-yea...
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