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Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

✍ Scribed by Christine Barnérias MD;; Irina Giurgea; Lucie Hertz-Pannier; Nadia Bahi-Buisson; Nathalie Boddaert; Pierre Rustin PhD;; Agnés Rotig; Isabelle Desguerre; Arnold Munnich; Pascale de Lonlay


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
295 KB
Volume
48
Category
Article
ISSN
0012-1622

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Aicardi-Goutières syndrome (AGS) is a rare inborn multisystemic disease, resembling intrauterine viral infection and resulting in psychomotor retardation, spasticity and chilblain-like skin lesions. Diagnostic criteria include intracerebral calcifications and elevated interferon-alpha and pterin lev