Article
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
Orphanet journal of rare diseases - 9 Oct 2021
Ardissone Anna, Bruno Claudio, Diodato Daria, Donati Alice, Ghezzi Daniele, Lamantea Eleonora, Lamperti Costanza, Mancuso Michelangelo, Martinelli Diego, Primiano Guido, Procopio Elena, Rubegni Anna, Santorelli Filippo, Schiaffino Maria Cristina, Servidei Serenella, Tubili Flavia, Bertini Enrico, Moroni Isabella
Abstract excerpt
BACKGROUND: Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in childhood. Numerous reports on the biochemical and molecular profiles of LS have been published, but there are limited studies on genetically confirmed large series. We reviewed the clinical, imaging,...
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