Diagnosing MERRF requires clinical and genetic evidence
The interesting case about a patients with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome due to the variant m.8344A>G with a heteroplasmy rate of 95% reported by Felczak et al. expands the phenotypic spectrum of MERRF syndrome. The authors reported a pituitary adenoma, calcium deposits...
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| Hovedforfatter: | |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Termedia Publishing House
2020-10-01
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| Serier: | Polish Journal of Pathology |
| Fag: | |
| Online adgang: | https://www.termedia.pl/Diagnosing-MERRF-requires-clinical-and-genetic-evidence,55,42031,1,1.html |
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