ArticleCase reports in neurological medicine2018
Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene.
Article in Case reports in neurological medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Pathogenic human mitochondrial tRNA variants impair RNA processing by compromising 5' leader removal.bioRxiv : the preprint server for biology · 2026Article
- The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study.International journal of reproductive biomedicine · 2023Article
- Weight Change Alters the Small RNA Profile of Urinary Extracellular Vesicles in Obesity.Obesity facts · 2022Article
- A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.Neuromuscular disorders : NMD · 2020Article
- Metabolic Alterations in Inherited Cardiomyopathies.Journal of clinical medicine · 2019Review
- Comment on "Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene".Case reports in neurological medicine · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations. Most mutations fall into three mitochondrial tRNAs (tRNAIle, tRNALeu (UUR), and tRNALys) and are responsible for half of the mitochondrial diseasees associated with tRNA mutation, with MERRF, MELAS, mitochondrial myopathy, and Leigh syndrome being the most frequent phenotypes. More than 100 tRNA pathogenetic mutations are described, showing little correlation between the observed clinical phenotype and a specific mitochondrial tRNA mutation. Furthermore different mutation can manifest with similar clinical phenotypes, making the genotype-phenotype correlation difficult. Here we report the case of an Italian 53-year-old woman presenting with a proximal myopathy and the m.5835G>A mutation in MT-TY gene coding for the mitochondrial tRNA Tyrosine gene.
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Registered trials
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