Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy
| Autor: | Toshikatsu Ichihara, Kyo Adachi, Takayuki Ozawa, Yoshimune Hiruta, Masashi Tanaka, Mamoru Mochizuki, Keisho Chin, Toshihiro Obayashi, Kouzou Shitomi |
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| Rok vydání: | 1995 |
| Předmět: |
Mitochondrial encephalomyopathy
Adult Mitochondrial DNA Pathology medicine.medical_specialty Molecular Sequence Data Mitochondrion RNA Transfer Amino Acyl DNA Mitochondrial Mitochondrial myopathy Mitochondrial Encephalomyopathies Biopsy Internal Medicine medicine Humans Point Mutation medicine.diagnostic_test Base Sequence business.industry Hypertrophic cardiomyopathy General Medicine Cardiomyopathy Hypertrophic medicine.disease Lactic acidosis Female business |
| Zdroj: | Internal medicine (Tokyo, Japan). 34(7) |
| ISSN: | 0918-2918 |
| Popis: | In a 24-year-old woman with mitochondrial encephalomyopathy presenting hypertrophic cardiomyopathy, microscopical examination of myocardial biopsy specimen disclosed severe vacuolar degeneration of myocardium and aggregates of enlarged mitochondria with proliferated cristae. Limb muscle biopsy specimen showed "ragged-red fibers" light microscopically and enlarged abnormal mitochondria with markedly increased cristae ultrastructurally. Mitochondrial DNA analysis by polymerase chain reaction (PCR) revealed an A-to-G transition in the mitochondrial transfer RNA(Leu)(UUR) gene at nucleotide position 3,243 which is reported to be associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). However, the clinical features of this case, presenting mainly cardiac abnormalities, were not consistent with the typical MELAS. |
| Databáze: | OpenAIRE |
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