258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands.

Neuromuscular disorders : NMD(2023)

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摘要
•LSS is one of the more frequently occuring neurodegenerative disorders of childhood.•Several papers reported data from Leigh syndrome national registries worldwide.•The onset is mostly < 2 years of age. An early onset correlates with a worse outcome.•The diagnosis of LSS relies on clinical, neuroimaging and genetics findings.•Therapies are still lacking. Numerous compounds are being testing in vitro or in vivo.
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