A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy
We describe a family with a maternally inherited mitochondrial myopathy and an A3288G mutation in the tRNA(Leu(UUR)) gene. The proband had muscle cramping and mild weakness while her brother had long-standing limb and respiratory muscle weakness and her daughter had elevated serum CK. The mutation,...
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| Veröffentlicht in: | Journal of the neurological sciences 1999-04, Vol.164 (2), p.153-157 |
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| container_title | Journal of the neurological sciences |
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| creator | Hadjigeorgiou, G M Kim, S H Fischbeck, K H Andreu, A L Berry, G T Bingham, P Shanske, S Bonilla, E DiMauro, S |
| description | We describe a family with a maternally inherited mitochondrial myopathy and an A3288G mutation in the tRNA(Leu(UUR)) gene. The proband had muscle cramping and mild weakness while her brother had long-standing limb and respiratory muscle weakness and her daughter had elevated serum CK. The mutation, which was nearly homoplasmic in muscle and heteroplasmic in blood, affects the TpsiC loop at a conserved site and was not found in 107 controls. This report confirms the frequent association of tRNA(Leu(UUR)) mutations with respiratory muscle involvement and bolsters the concept that tRNA(Leu(UUR)) is a hotspot for mtDNA mutations. |
| doi_str_mv | 10.1016/S0022-510X(99)00062-3 |
| format | Article |
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The proband had muscle cramping and mild weakness while her brother had long-standing limb and respiratory muscle weakness and her daughter had elevated serum CK. The mutation, which was nearly homoplasmic in muscle and heteroplasmic in blood, affects the TpsiC loop at a conserved site and was not found in 107 controls. 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| ispartof | Journal of the neurological sciences, 1999-04, Vol.164 (2), p.153-157 |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adult Base Sequence - genetics Child, Preschool DNA, Mitochondrial - genetics Female Humans Male Middle Aged Mitochondria, Muscle - metabolism Mitochondrial Myopathies - genetics Mutation - genetics Pedigree Polymorphism, Genetic - genetics Polymorphism, Restriction Fragment Length RNA, Transfer, Leu - genetics |
| title | A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy |
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