Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

Abstract Background Leigh Syndrome (LS, OMIM 256000) is an early-onset, progressive neurodegenerative disorder characterized by broad clinical and genetic heterogeneity; it is the most frequent disorder of mitochondrial energy production in children. LS inheritance is complex because patients may pr...

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Bibliographic Details
Main Authors: Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini, Maria Adelaide Caligo
Format: Article
Language:English
Published: BMC 2018-07-01
Series:BMC Neurology
Subjects:
Leigh disease
ECHS1 gene
Exome analysis
Online Access:http://link.springer.com/article/10.1186/s12883-018-1103-7

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