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TK2 mutation presenting as indolent myopathy
Recessive mutations in the TK2 gene typically cause fatal infantile mitochondrial DNA (mtDNA) depletion syndromes (MDS).(1–3) However, the progression of weakness may vary,(4) as shown by recently described adult patients with late-onset myopathy.(5,6) To date, only 5 adult patients with TK2-related...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Lippincott Williams & Wilkins
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3590052/ https://ncbi.nlm.nih.gov/pubmed/23303857 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31827f0ff7 |
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