✦ LIBER ✦

57. Benign infantile cytochrome c oxidase deficiency myopathy: Reversible or not?

✍ Scribed by Juan C. Cassano; Rodger Pamphlett; Carolyn M. Sue

Book ID: 116675820
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 35 KB
Volume: 17
Category: Article
ISSN: 0967-5868
DOI: 10.1016/j.jocn.2010.07.058

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Fatal infantile mitochondrial myopathy d

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

✍ P.E. Minchom; R.L. Dormer; I.A. Hughes; D. Stansbie; A.R. Cross; G.A.F. Hendry; 📂 Article 📅 1983 🏛 Elsevier Science 🌐 English ⚖ 892 KB

Studying the molecular basis of the reve

Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency

✍ V. Boczonadi; P.M. Smith; K. Sitarz; Z.M.A. Chrzanowska-Lightowlers; R.N. Lighto 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 55 KB

Fatal infantile mitochondrial myopathy a

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient

✍ Massimo Zeviani; Ikuya Nonaka; Euardo Bonilla; Eizo Okino; Dr Maurizio Moggio; S 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 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

P30 Does a physiological COX isoform swi

P30 Does a physiological COX isoform switch contribute to the clinical presentation of infantile reversible cytochrome c oxidase deficiency?

✍ Boczonadi, V.; Schara, U.; Horvath, R. 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 68 KB