Article
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
American journal of medical genetics. Part A - 1 Mar 2017
Lamont Ryan E, Beaulieu Chandree L, Bernier Francois P, Sparkes Rebecca, Innes A Micheil, Jackel-Cram Candice, Ober Carole, Parboosingh Jillian S, Lemire Edmond G
Abstract excerpt
Leigh disease is a progressive, infantile-onset, neurodegenerative disorder characterized by feeding difficulties, failure to thrive, hypotonia, seizures, and central respiratory compromise. Metabolic and neuroimaging investigations typically identify abnormalities consistent with a disorder of mitochondrial energy metabolism. Mutations in more than 35 genes affecting the mitochondrial respiratory chain encoded...
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