Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy?
نویسندگان
چکیده
منابع مشابه
Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy?
Keywords: Leigh syndrome ATP6A T9176C Autoimmune encephalitis Plasmapheresis Intravenous immunoglobulin We appreciate Dr. Finsterer et al. [1] interest in our case report [2]. They express doubts about the diagnosis of Leigh syndrome (LS). Our patient's diagnosis was based on the presence of a known ATPase 6 gene pathogenic mutation (T9176C), previously described in other LS cases [3–8] , and a...
متن کاملWhy does Leigh syndrome respond to immunotherapy?
With interest we read the article by Chuquilin et al. about a 20yo femalewith Leigh syndromedue to them.9176T N Cmutation in the ATP6 gene who responded favourably to plasmapheresis and immunoglobulins [1]. We have the following comments and concerns. Themain ambiguity of this report is thediagnosis. Except for the current case, Leigh syndrome has not been reported to respond to immunosuppressi...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2016
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2016.08.003