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Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9
Garone, Caterina; Donati, Maria Alice; Sacchini, Michele; Garcia Diaz, Beatriz; Bruno, Claudio; Calvo, Sarah; Mootha, Vamsi K; DiMauro, Salvatore[et al.] (American Medical Association, 2013)Importance Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of “MitoExome” sequencing (deep sequencing of the entire mitochondrial genome and the coding ...