Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation

Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder, characterized by a wide clinical and genetic heterogeneity, and is the most frequent disorder of mitochondrial energy production in children. Beside its great variability in clinical, biochemical, and genetic features, LS...

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Xehetasun bibliografikoak
Argitaratua izan da:JIMD Rep
Egile Nagusiak: Minoia, Francesca, Bertamino, Marta, Picco, Paolo, Severino, Mariasavina, Rossi, Andrea, Fiorillo, Chiara, Minetti, Carlo, Nesti, Claudia, Santorelli, Filippo Maria, Di Rocco, Maja
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Berlin Heidelberg 2017
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740043/
https://ncbi.nlm.nih.gov/pubmed/28247337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_9
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