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Multiple cytochrome deficiency and deteriorated mitochondrial polypeptide composition in fatal infantile mitochondrial myopathy and renal dysfunction

โœ Scribed by Masashi Tanaka; Morimitsu Nishikimi; Hiroshi Suzuki; Takayuki Ozawa; Eizo Okino; Hiroaki Takahashi

Book ID
115759959
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
570 KB
Volume
137
Category
Article
ISSN
0006-291X

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A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocyt