Case Reports in Neurological Medicine / 2018 / Article / Tab 1

Case Report

Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene

Table 1

Overview of the published cases with mitochondrial MTTY gene mutations.

Nucleotide ChangePhenotypeReference

m.5874A>GPtosis, limb weakness, exercise intolerance with complex III deficiencyPulkes T, Neurology 2000
m.5885delTChronic progressive external ophthalmoplegia, myopathy and exercise intoleranceRaffelsberger T, Neurology 2001
m.5877G>AChronic progressive external ophthalmoplegia, proximal muscle weaknessSahashi T, Journal of medical genetics 2001
m.5843A>GFocal segmental glomerulosclerosis, cardiomyopathyScaglia F, American journal of medical genetics 2003
m.5835G>AChronic progressive external ophthalmoplegiaKornblum C Bioscience reports 2008
m.5835G>ALimb girdle muscle weakness, swallowing impairmentPresent case

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