Article
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
Human molecular genetics - 1 Feb 2018
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
Abstract excerpt
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 severe epileptic encephalopathy associated with respiratory complex I deficiency and mitochondrial DNA depletion in...
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