ArticleEuropean journal of human genetics : EJHG2013
Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Mitochondrial RNA in Inflammation.International journal of biological sciences · 2025Review
- Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases.Nucleic acids research · 2024Article
- Intimate Relations-Mitochondria and Ageing.International journal of molecular sciences · 2020Review
- A conditional mouse model of complex II deficiency manifesting as Leigh-like syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- De novo mtDNA point mutations are common and have a low recurrence risk.Journal of medical genetics · 2017Article
- Focal segmental glomerulosclerosis associated with mitochondrial disease.Clinical nephrology. Case studies · 2017Article
- Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.Muscle & nerve · 2014Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a novel pathogenic mutation of the mitochondrial transfer RNA (tRNA) gene for tryptophan in a patient with isolated myopathy and persistently elevated creatine kinase. Muscle studies revealed ragged red fibres and decreased activity of respiratory chain complex I and cytochrome c oxidase (COX). Sequencing of the 22 mitochondrial tRNA genes revealed a mutation m.5522G>A, which alters a conserved base pairing in the D-stem of the tRNA for tryptophan. The mutation was heteroplasmic with a mutational load between 88 and 99% in COX-negative fibres. This case contributes to the genetic heterogeneity of mitochondrial diseases caused by mutations in mitochondrial tRNA genes.
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