期刊
NEUROMUSCULAR DISORDERS
卷 20, 期 2, 页码 131-135出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2009.10.010
关键词
Mitochondrial DNA; Complex I; Frameshift mutation; Myopathy; Heteroplasmy
资金
- Deutsche Forschungsgemeinschaft [HO2505/2-1]
- Academy of Medical Sciences [BH090164]
- RVI/NGH
- Newcastle upon Tyne Hospitals NHS Charity [RES0211/7262]
- Wellcome Trust
- UK National Commissioning Group
- Medical Research Council [G0601943B] Funding Source: researchfish
Isolated complex I deficiency is the most commonly reported enzyme defect in paediatric mitochondrial disorders, and may arise due to mutations in nuclear-encoded structural or assembly genes, or the mitochondrial genome. We present the clinical, biochemical and molecular genetic data in a young girl whose clinical picture is dominated by chronic renal failure, myopathy and persistent lactic acidosis. An isolated complex I deficiency in muscle was identified due to a novel mutation (m.12425delA) in the MTND5 gene. This single nucleotide deletion is heteroplasmic and detectable in several tissues from the proband but not her mother, suggesting a de novo Mutation event. The description of the first frameshift mutation in a mitochondrial complex I gene affirms mitochondrial DNA mutations as an important cause of isolated complex I deficiency in children and the importance of whole mitochondrial genome sequencing in the diagnostic work-up to elucidate the underlying molecular genetic abnormality and provide important genetic advice. (C) 2009 Elsevier B.V. All rights reserved.
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