COQ2 Nephropathy: A Newly Described Inherited Mitochondriopathy with Primary Renal Involvement
نویسندگان
چکیده
منابع مشابه
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Primary coenzyme Q(10) (CoQ(10)) deficiency includes a group of rare autosomal recessive disorders primarily characterized by neurological and muscular symptoms. Rarely, glomerular involvement has been reported. The COQ2 gene encodes the para-hydroxybenzoate-polyprenyl-transferase enzyme of the CoQ(10) synthesis pathway. We identified two patients with early-onset glomerular lesions that harbor...
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ژورنال
عنوان ژورنال: Journal of the American Society of Nephrology
سال: 2007
ISSN: 1046-6673,1533-3450
DOI: 10.1681/asn.2006080833