Reversible mitochondrial myopathy with cytochrome c oxidase deficiency.
نویسندگان
چکیده
منابع مشابه
Reversible mitochondrial myopathy with cytochrome c oxidase deficiency.
Two siblings, a boy and a girl born in a nonconsanguineous marriage, presented with a similar clinical course. Sucking and breathing difficulties appeared within a few weeks of birth. Clinical examination revealed profound muscular hypotonia, hepatomegaly, increased serum creatine kinase activities, and lactic acidosis. Both infants were treated with gavage feeding, the boy also needing ventila...
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Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good p...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1992
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.67.8.1033