Novel POLG splice site mutation and optic atrophy

M Milone, J Wang, T Liewluck, LC Chen… - Archives of …, 2011 - jamanetwork.com
Objective To investigate the molecular etiology of 2 unrelated patients with a multisystem
mitochondrial disorder accompanied by optic atrophy in one of them. Design Clinical
examination and neurophysiological, radiological, morphological, and molecular analyses.
Setting Tertiary care neuromuscular clinic and molecular genetics laboratory. Patients A 65-
year-old man (patient 1) with dyschromatopsia and vision loss since childhood developed
progressive external ophthalmoplegia, ptosis, and myopathy in the seventh decade of life …