Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9‐deficient mild myopathy期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9‐deficient mild myopathy

Authors:	Konstantina Fragaki PhD Annabelle Chaussenot MD Audrey Boutron MD Sylvie Bannwarth PhD Charlotte Cochaud CT Christian Richelme MD Sabrina Sacconi MD PhD Veronique Paquis‐Flucklinger MD PhD

Affiliation:	1. Nice Sophia Antipolis University, Institute for Research on Cancer and Aging (IRCAN), CNRS, INSERM, UMR 7284 and U1081, School of Medicine, Nice cedex 2, France;2. Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France;3. Department of Biochemistry, Bicetre Hospital, Assistance Publique des H?pitaux de Paris (AP‐HP), Paris‐Sud Teaching Hospital, Paris, France;4. Department of Pediatrics, Nice Teaching Hospital, Nice, France;5. National Centre for Neuromuscular Disorders, Nice Teaching Hospital, Nice, France

Abstract:

Keywords:	ACAD9 mutation complex I deficiency complex I disassembly exercise intolerance mitochondrial myopathy mtDNA deletions