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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Neuromuscul Disord
मुख्य लेखकों: Bacalhau, Mafalda, Simões, Marta, Rocha, Mariana C., Hardy, Steven A., Vincent, Amy E., Durães, João, Macário, Maria C., Santos, Maria João, Rebelo, Olinda, Lopes, Carla, Pratas, João, Mendes, Cândida, Zuzarte, Mónica, Rego, A. Cristina, Girão, Henrique, Wong, Lee-Jun C., Taylor, Robert W., Grazina, Manuela
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Pergamon Press 2018
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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