Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

Abstract 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...

Full description

Bibliographic Details
Main Authors: Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili, Enrico Bertini, Isabella Moroni
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Leigh syndrome
Mitochondrial disease
Childhood
Basal ganglia
Online Access:https://doi.org/10.1186/s13023-021-02029-3

Internet

https://doi.org/10.1186/s13023-021-02029-3

Similar Items