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Article

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.

Neuromuscular disorders : NMD - 1 Feb 2010

Alston Charlotte L, Morak Monika, Reid Christopher, Hargreaves Iain P, Pope Simon A S, Land John M, Heales Simon J, Horvath Rita, Mundy Helen, Taylor Robert W

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20018511
DOI: 10.1016/j.nmd.2009.10.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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