Leigh syndrome global patient registry: uniting patients and researchers worldwide

Leigh syndrome global patient registry: uniting patients and researchers worldwide

Abstract Background Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, suc...

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Bibliographic Details
Main Authors: Sophia Zilber, Kasey Woleben, Simon C. Johnson, Carolina Fischinger Moura de Souza, Danielle Boyce, Kevin Freiert, Courtney Boggs, Souad Messahel, Melinda J. Burnworth, Titilola M. Afolabi, Saima Kayani
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Leigh syndrome
Leigh disease
Mitochondrial disease
Patient registry
Patient driven
Real world data
Online Access:https://doi.org/10.1186/s13023-023-02886-0

Internet

https://doi.org/10.1186/s13023-023-02886-0

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