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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 59 (1983), S. 70-74 
    ISSN: 1432-0533
    Keywords: Mitochondrial myopathy ; Giant mitochondria ; Familial mitochondrial myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The most prominent ultrastructural feature of muscle tissue in two siblings with a childhood-onset myopathy was the presence of giant mitochondria of up to 4 μm in length. The mitochondria had no tendency to aggregate and kept their normal localization among the myofibrils. Such a megaconial myopathy was first described by Shy and Gonatas (1964), In our family two members had the disease and consanguinity between their parents was present. These data suggest that megaconial myopathy might be a real nosologic entity genetically transmitted as an autosomal recessive trait.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Corticosterone methyl oxidase type II ; Failure to thrive ; Salt wasting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Corticosterone methyl oxidase type II (CMO II) deficiency is an uncommon cause of salt-wasting in infancy. We describe a boy who presented with recurrent dehydration and severe failure to thrive in the first 3 months of life, associated with mild hyponatraemia (serum Na+ 127–132 mEq/l) and hyperkalaemia (serum K+ 5.3–5.9 mEq/l). The diagnosis was suggested by an elevated plasma renin activity (PRA): serum aldosterone ratio, and subsequently confirmed by an elevated serum 18-hydroxycorticosterone: aldosterone ratio. Treatment with 9α-fluorohydroxycortisone normalized growth parameters and PRA levels. CMO II deficiency should be considered in infants with recurrent dehydration and failure to thrive, even when serum sodium and potassium levels are not strikingly abnormal.
    Type of Medium: Electronic Resource
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