Respiratory chain deficiency in nonmitochondrial disease
نویسندگان
چکیده
منابع مشابه
Respiratory chain deficiency in nonmitochondrial disease
OBJECTIVE In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease. METHODS The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing. RESULTS Five pati...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2015
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000006