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macroglossia/oxidase

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ČlanciKlinička ispitivanjaPatenti
2 rezultatima

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.

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Prijava Registriraj se
A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 months of age, he had mild proximal weakness.

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency.

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Prijava Registriraj se
A 3-day-old girl had a syndrome of lethargy and lactic acidosis. Pregnancy and delivery had been normal; there was no consanguinity or family history of neuromuscular disease. At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and
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