Main clinical features
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lethal neonatal mitochondrial disease, intrauterine growth retardation, minor facial dysmorphism, and other minor dysmorphic features with unusual hair patterning, abnormal toes, and a small sacral pit
cerebral ultrasound showed agenesis of the corpus callosum and ventricular septation
marked complex I deficiency in skeletal muscle, liver, and skin fibroblasts of the proband, with essentially normal activity of other complexes
at the cerebral MRI, presence of striatal anomalies (PMID: 20972245))
also cases of typical Leigh syndrome (PMID: 19542079)) |