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Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant
Chronic Progressive External Ophthalmoplegia (CPEO) is characterized by ptosis and ophthalmoplegia and is usually caused by mitochondrial DNA (mtDNA) deletions or mt-tRNA mutations. The aim of the present work was to clarify the genetic defect in a patient presenting with CPEO and elucidate the unde...
में बचाया:
में प्रकाशित: | Neuromuscul Disord |
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मुख्य लेखकों: | , , , , , , , , , , , , , , , , , |
स्वरूप: | Artigo |
भाषा: | Inglês |
प्रकाशित: |
Pergamon Press
2018
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विषय: | |
ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5952895/ https://ncbi.nlm.nih.gov/pubmed/29398297 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2017.11.006 |
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