Table.

Clinical and molecular genetic findings in patients with RRM2B mutations

Abbreviations: GI = gastrointestinal; IBS = irritable bowel syndrome; PEO = progressive external ophthalmoplegia.

^aHistorical reports of affected relatives; formal genetic testing not performed unless indicated (relatives of patient 4 and patient 11).

^bc.950delT (p.Leu317X) was shown to segregate with disease in patient 4 and other clinically affected relatives indicated above, all of whom had PEO although muscle biopsy was not performed.

^cc.583G>A (p.Gly195Arg) was shown to segregate with disease in patient 11 and his son, although the son's symptoms were mild and a muscle biopsy had not been performed.