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Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

โœ Scribed by P.E. Minchom; R.L. Dormer; I.A. Hughes; D. Stansbie; A.R. Cross; G.A.F. Hendry; O.T.G. Jones; M.A. Johnson; H.S.A. Sherratt; D.M. Turnbull

Book ID
118929768
Publisher
Elsevier Science
Year
1983
Tongue
English
Weight
892 KB
Volume
60
Category
Article
ISSN
0022-510X

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๐Ÿ“œ SIMILAR VOLUMES

Fatal infantile mitochondrial myopathy a
Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient
โœ Massimo Zeviani; Ikuya Nonaka; Euardo Bonilla; Eizo Okino; Dr Maurizio Moggio; S ๐Ÿ“‚ Article ๐Ÿ“… 1985 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 628 KB

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