SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

Mitochondrial diseases are a plethora of inherited neuromuscular disorders sharing defects in mitochondrial respiration, but largely different from one another for genetic basis and pathogenic mechanism. Whole exome sequencing was performed in a familiar trio (trio-WES) with a child affected by seve...

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Publicat a:Hum Mol Genet
Autors principals: Punzi, Giuseppe, Porcelli, Vito, Ruggiu, Matteo, Hossain, Md F, Menga, Alessio, Scarcia, Pasquale, Castegna, Alessandra, Gorgoglione, Ruggiero, Pierri, Ciro L, Laera, Luna, Lasorsa, Francesco M, Paradies, Eleonora, Pisano, Isabella, Marobbio, Carlo M T, Lamantea, Eleonora, Ghezzi, Daniele, Tiranti, Valeria, Giannattasio, Sergio, Donati, Maria A, Guerrini, Renzo, Palmieri, Luigi, Palmieri, Ferdinando, De Grassi, Anna
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2018
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886107/
https://ncbi.nlm.nih.gov/pubmed/29211846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx419
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