A Novel Mitochondrial Transfer RNAAsn Mutation Causing Multiorgan Failure
نویسندگان
چکیده
منابع مشابه
A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.
BACKGROUND Mitochondrial cytopathies are a heterogeneous group of disorders with a broad spectrum of clinical symptoms. OBJECTIVE To characterize a novel mutation in the transfer RNA(Asn) (m.5728A>G) identified in a 13-year-old boy with multiorgan failure. DESIGN Biochemical and immunocytochemical studies were performed in combination with transmitochondrial cybrid analysis. SETTING A uni...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2006
ISSN: 0003-9942
DOI: 10.1001/archneur.63.8.1194