Discovery of genetic mutation in Leigh syndrome

Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by the degeneration of the central nervous system. The study published in Nature Genetics, provides vital insights into the cell biology of this neurological disorder and will lead to the development of diagnostic and predictive tests allowing for family and genetic counseling.

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