Article
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.
Neuromuscular disorders : NMD - 1 Apr 2018
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
Abstract excerpt
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 underlying pathogenic mechanism. This 62-year-old female first developed ptosis of the right eye at the age of 12 and...
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