Results 11 to 20 of about 9,115 (202)

A novel m.14677 T > C variant in mitochondrial tRNA^Glu gene causes chronic progressive external ophthalmoplegia. [PDF]

J Hum Genet
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by progressive ptosis and ophthalmoplegia, caused by single deletions, point mutations, or multiple deletions in mitochondrial DNA (mtDNA).
Ueda NK, Mimaki M, Ito S, Murakami A, Yokoi S, Nishino I, Katsuno M, Goto YI.   +7 more
europepmc   +2 more sources

Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study. [PDF]

BMC Ophthalmol
Primary mitochondrial myopathies (PMM) are disorders that involve defects in oxidative phosphorylation (OXPHOS) and impair mainly, but not exclusively, skeletal muscles.
Savino G, Giannuzzi F, Cima V, Brando D, Fossataro C, Servidei S, Savastano MC, Primiano G.   +7 more
europepmc   +2 more sources

Anaesthesia Concepts in Patients with Chronic Progressive External Ophthalmoplegia Undergoing Ophthalmic Surgery-A Retrospective Cohort Analysis. [PDF]

J Clin Med
Background: Chronic progressive external ophthalmoplegia (CPEO) belongs to the group of mitochondrial encephalomyopathies. Anaesthesia for patients with CPEO may be associated with an increased risk due to known drug effects on mitochondrial metabolism ...
Leister N, Wendt S, Hedergott A, Heindl LM, Rokohl AC, Stoll SE, Gordon E, Böttiger BW, Fricke J, Schick VC.   +9 more
europepmc   +2 more sources

Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia. [PDF]

Front Neurol, 2020
Mitochondrial chronic progressive external ophthalmoplegia (CPEO) is a major manifestation of human mitochondrial encephalomyopathies. Previous studies have shown cognitive deficits in patients with mitochondrial diseases.
Zhang G, Hou Y, Wang Z, Ye Z.
europepmc   +2 more sources

Clinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia. [PDF]

Exp Ther Med, 2020
The aim of the present study was to explore the clinical, neuroelectrophysiological and muscular pathological characteristics of chronic progressive external ophthalmoplegia (CPEO) and to improve the understanding of CPEO.
Lv H, Qu Q, Liu H, Qian Q, Zheng X, Zhang Y.   +5 more
europepmc   +2 more sources

Type and Frequency of Misdiagnosis and Time Lag to Diagnosis in Patients with Chronic Progressive External Ophthalmoplegia. [PDF]

J Ophthalmic Vis Res
Purpose Since ptosis is an early feature of chronic progressive external ophthalmoplegia (CPEO), patients are commonly misdiagnosed with other causes of ptosis.
Karimi N, Ghahvehchian H, Keyhani A, Manavishad A, Compton CJ, Clark JD, West NL, Kashkouli MB.   +7 more
europepmc   +2 more sources

Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report. [PDF]

Medicine (Baltimore), 2017
Rationale: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia.
Lv ZY, Xu XM, Cao XF, Wang Q, Sun DF, Tian WJ, Yang Y, Wang YZ, Hao YL.   +8 more
europepmc   +2 more sources

A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2023
Liu H, Gao M, Sun Q, Chen S, Luo Y, Yang H, Li Q, Li J, Yang G.   +8 more
europepmc   +2 more sources

Strabismus in chronic progressive external ophthalmoplegia

Acta Ophthalmologica, 2020
AbstractPurposeTo elucidate the patterns of strabismus and ophthalmoplegia associated with chronic progressive external ophthalmoplegia (CPEO) confirmed by mitochondrial DNA (mtDNA) deletions in Asians.MethodsA total of 10 patients confirmed to have mtDNA deletion associated with CPEO were included.
Ji Yeon Kim, Hee Kyung Yang, Namju Kim, Man Jin Kim, Sung Im Cho, Moon‐Woo Seong, Sung Sup Park, Jeong‐Min Hwang   +7 more
openaire   +3 more sources

Chronic Progressive External Ophthalmoplegia (CPEO): Rehabilitation utilizing scleral contact lenses. [PDF]

Am J Ophthalmol Case Rep
Erdinest N, Shemesh N, London N, Landau D, Lavy I.   +4 more
europepmc   +2 more sources