Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation
| Autor: | O. T. Jones, Jacqueline T. Hecht, Sara Austin, F. T. Thandroyen, Francine J. Vriesendorp, Donald R. Johns |
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| Rok vydání: | 1998 |
| Předmět: |
Male
medicine.medical_specialty Mitochondrial DNA Ataxia Lipomatosis Mitochondrion medicine.disease_cause DNA Mitochondrial Mitochondrial myopathy Internal medicine medicine Diabetes Mellitus Humans Point Mutation Myopathy Genetics Mutation business.industry Middle Aged medicine.disease MERRF Syndrome Pedigree Endocrinology Phenotype Hypertension Myoclonic epilepsy RNA Transfer Lys Female Neurology (clinical) Lipoma medicine.symptom business |
| Zdroj: | Neurology. 51(5) |
| ISSN: | 0028-3878 |
| Popis: | The A-to-G mutation at position 8344 in the transfer RNAlysine mitochondrial DNA gene is associated mostly with the myoclonic epilepsy and ragged red fibers syndrome. We describe a five-generation family with this mutation and 19 affected members with a variant neurologic syndrome of ataxia, myopathy, hearing loss, and neuropathy. Along with axial lipomas and diabetes mellitus, hypertension is a frequent somatic feature, suggesting that mitochondrial mutations may contribute to hypertension in these patients. |
| Databáze: | OpenAIRE |
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