title: Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.
abstract: The authors describe a newborn with postnatal myopathy who subsequently developed feeding difficulties, ophthalmoplegia, ptosis, encephalopathy, and seizures. She became ventilator dependent after sudden apnea. The myopathy was without ragged red fibers in the muscle biopsy. An electron transport chain study showed a markedly generalized low level of enzyme activity, particularly in complexes I, I + III, and IV. An initial electroencephalogram finding was normal; subsequent electroencephalograms showed suppression bursts. The mitochondrial copy number in skeletal muscle was 2% of normal.
authors: Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan. y610@mercury.csmu.edu.tw
authors: Inn-Chi
authors: IC
authors: Lee
authors: Ni-Chung
authors: NC
authors: Lee
authors: Jang-Jih
authors: JJ
authors: Lu
authors: Pen-Hua
authors: PH
authors: Su
mesh_terms: D001921:Brain / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000473:pathology*; D007684:Kidney Tubules / Q000473:pathology*; D007888:Leigh Disease / Q000378:metabolism / Q000473:pathology*; D008928:Mitochondria / Q000378:metabolism / Q000473:pathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000378:metabolism / Q000473:pathology*