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

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 present mu...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Neurol
Päätekijät: Aretini, Paolo, Mazzanti, Chiara Maria, La Ferla, Marco, Franceschi, Sara, Lessi, Francesca, De Gregorio, Veronica, Nesti, Claudia, Valetto, Angelo, Bertini, Veronica, Toschi, Benedetta, Battini, Roberta, Caligo, Maria Adelaide
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2018
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6054728/
https://ncbi.nlm.nih.gov/pubmed/30029642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-018-1103-7
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