A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns–Sayre syndrome

Kearns–Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS m...

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Veröffentlicht in:European journal of pediatrics 2013-04, Vol.172 (4), p.557-561
Hauptverfasser: Tzoufi, Meropi, Makis, Alexandros, Chaliasos, Nikolaos, Nakou, Iliada, Siomou, Ekaterini, Tsatsoulis, Agathoklis, Zikou, Anastasia, Argyropoulou, Maria, Bonnefont, Jean Paul, Siamopoulou, Antigone
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Sprache:eng
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