| Title |
Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNASer (UCN) gene
|
|---|---|
| Published in |
Acta Neuropathologica, August 2005
|
| DOI | 10.1007/s00401-005-1063-z |
| Pubmed ID | |
| Authors |
Tobias Müller, Marcus Deschauer, Stephan Neudecker, Stephan Zierz |
| Abstract |
Mutations of mitochondrial tRNA genes are usually associated with multi-systemic disorders with onset of symptoms in childhood or early adulthood. Dystrophic myopathic changes are not typical features of these disorders. We report two siblings with a severe progressive myopathy of late onset without external ophthalmoplegia and without involvement of the central and peripheral nervous system. Muscle biopsy specimens showed severe myopathic changes similar to those found in muscular dystrophies. Molecular analysis revealed a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene. In both patients, the proportion of mutated mitochondrial DNA in muscle was more than 97%. Mitochondrial disorder associated with the G7497A mutation has to be included into the differential diagnosis of severe progressive late-onset myopathy with histopathological dystrophic myopathic changes. Mitochondrial myopathy and high level of mutated mtDNA might be a characteristic of the G7497A tRNA(Ser(UCN)) mutation. |
Mendeley readers
The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 10 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 3 | 30% |
| Researcher | 2 | 20% |
| Other | 1 | 10% |
| Student > Master | 1 | 10% |
| Unknown | 3 | 30% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 30% |
| Agricultural and Biological Sciences | 2 | 20% |
| Immunology and Microbiology | 1 | 10% |
| Biochemistry, Genetics and Molecular Biology | 1 | 10% |
| Unknown | 3 | 30% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 09 April 2008.
All research outputs
#7,454,298
of 22,789,076 outputs
Outputs from Acta Neuropathologica
#1,364
of 2,366 outputs
Outputs of similar age
#20,305
of 58,200 outputs
Outputs of similar age from Acta Neuropathologica
#4
of 8 outputs
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