Article
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
Molecular genetics and metabolism - 1 Mar 2016
Gerards Mike, Sallevelt Suzanne C E H, Smeets Hubert J M
Abstract excerpt
Leigh syndrome is a progressive neurodegenerative disorder, affecting 1 in 40,000 live births. Most patients present with symptoms between the ages of three and twelve months, but adult onset Leigh syndrome has also been described. The disease course is characterized by a rapid deterioration of cognitive and motor functions, in most cases resulting in death due to respiratory failure. Despite the high genetic...
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