Chronic Progressive External Ophthalmoplegia
What's New
Last Posted: Mar 10, 2023
- Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations.
Bindu Parayil Sankaran, et al. Clinical neurology and neurosurgery 2017 0 182-189 - Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.
Morovat Alireza, et al. Journal of clinical medicine 2017 0 (8) - Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.
Hu Chaoping, et al. Frontiers in neurology 2020 0 1000 - [Chronic progressive external ophthalmoplegia that could not be diagnosed by biceps muscle biopsy, but was genetically diagnosed by extraocular muscle biopsy].
Shiraishi Wataru, et al. Rinsho shinkeigaku = Clinical neurology 2022 0 (12) 946-951 - Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.
Bychkov I O, et al. Mitochondrion 2021 0 205-212 - Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye.
Smits Bart W, et al. Neuromuscular disorders : NMD 2011 0 (4) 272-8 - A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss.
van Kempen Carlijn M A, et al. Molecular genetics and metabolism 2022 0 (4) 333-341 - Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.
Heighton Julia N, et al. Mitochondrion 2019 9 - Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.
Paramasivam Arumugam, et al. Mitochondrion 2015 12 81-85 - The unfolding clinical spectrum of POLG mutations.
Blok M J, et al. Journal of medical genetics 2009 11 (11) 776-85 - Chronic progressive external ophthalmoplegia
From NCATS Genetic and Rare Diseases Information Center - Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.
Cardaioli E, et al. Journal of the neurological sciences 2008 9 (1-2) 106-9 - Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
Blok M J, et al. Journal of medical genetics 2007 4 (4) e74 - Clinical features of A3243G mitochondrial tRNA mutation.
Chae Jong Hee, et al. Brain & development 2004 10 (7) 459-62 - Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.
Marotta R, et al. Internal medicine journal 0 0 (1-2) 10-9
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