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. 2019 Jan:44:15-19.
doi: 10.1016/j.mito.2017.12.006. Epub 2017 Dec 12.

Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort

Julia N Heighton  1 , Lauren I Brady  1 , Matthew C Newman  1 , Mark A Tarnopolsky  2
Affiliations

Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort

Julia N Heighton et al. Mitochondrion. 2019 Jan.

Abstract

Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. We evaluated the impact of sex and smoking status upon knee extension strength and the phenotypic spectrum of disease in a large cohort of adult-onset CPEO patients (N=116) using retrospective chart analysis. The CPEO patients showed significantly lower knee extension strength as compared to the age- and sex-matched control population (-37%, P<0.05). Smoking also negatively impacted knee extension strength only in women with CPEO (-26%, P<0.05). We conclude that smoking and female sex interact negatively in CPEO patients.

Keywords: Chronic progressive external ophthalmoplegia; Mitochondria; Phenotypic spectrum; Smoking; Strength.

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