A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy
| العنوان: | A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy |
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| المؤلفون: | Johan L.K. Van Hove, Tony Reybrouck, Patrice Givron, Ann Meulemans, Sara Seneca, Joél Smet, Nathalie Goemans, Raphael Sciot, Rudy Van Coster |
| المساهمون: | Department of Embryology and Genetics |
| المصدر: | Vrije Universiteit Brussel |
| بيانات النشر: | Wiley, 2005. |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | Adult, Mitochondrial DNA, Biopsy, DNA Mutational Analysis, Molecular Sequence Data, mitochondrial DNA, Mitochondrion, Biology, medicine.disease_cause, tRNA genes, DNA, Mitochondrial, Mitochondrial myopathy, Genetics, medicine, Humans, Point Mutation, Muscle, Skeletal, Genetics (clinical), RNA, Transfer, Asp, Mutation, Muscle biopsy, Base Sequence, medicine.diagnostic_test, Point mutation, mitochondrial myopathy, Mitochondrial Myopathies, exercise intolerance, medicine.disease, Molecular biology, Heteroplasmy, Biochemistry, Transfer RNA, tRNAAsp, Female |
| الوصف: | Several mutations in mitochondrial transfer RNA (tRNA) genes can cause mitochondrial myopathy. We describe a young girl who presented with pronounced exercise intolerance. The anaerobic threshold and the maximal oxygen consumption were decreased. She had decreased complex I and IV enzyme activity and ragged red fibers on muscle biopsy. An A to G transition at nucleotide position 7526 in tRNA Aspartate (tRNAAsp) gene was heteroplasmic in several of the patient's tissues. We were unable to detect the mutation in muscle tissue from the patient's mother. This case adds a new genetic etiology for mitochondrial myopathy. It also illustrates for patients with combined deficiency of the complex I and IV enzyme activity the value of sequencing in the affected tissue muscle, and not only in blood, all mitochondrial tRNA genes including those not commonly affected, such as in this case mt tRNAAsp. © 2005 Wiley-Liss, Inc. |
| تدمد: | 1552-4833 1552-4825 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359b88304805283e61a6e85d64c57709Test https://doi.org/10.1002/ajmg.a.30854Test |
| حقوق: | RESTRICTED |
| رقم الانضمام: | edsair.doi.dedup.....359b88304805283e61a6e85d64c57709 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524833 15524825 |
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