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 Change	Phenotype	Reference
m.5874A>G	Ptosis, limb weakness, exercise intolerance with complex III deficiency	Pulkes T, Neurology 2000
m.5885delT	Chronic progressive external ophthalmoplegia, myopathy and exercise intolerance	Raffelsberger T, Neurology 2001
m.5877G>A	Chronic progressive external ophthalmoplegia, proximal muscle weakness	Sahashi T, Journal of medical genetics 2001
m.5843A>G	Focal segmental glomerulosclerosis, cardiomyopathy	Scaglia F, American journal of medical genetics 2003
m.5835G>A	Chronic progressive external ophthalmoplegia	Kornblum C Bioscience reports 2008
m.5835G>A	Limb girdle muscle weakness, swallowing impairment	Present case