Fig. 32.14
Percentage frequency of clinical features associated with the A to G 3243 and A to G 8344 point mutations of mitochondrial DNA. Str = recurrent stroke-like episodes; CPEO = chronic progresive external ophthalmoplegia; Db = diabetes mellitus; RP = pigmentary retinopathy; Df = deafness; Dem = dementia; Ep = epilepsy; Myop = myopathy; ShSt = short stature; Lip = lipomata; OA = optic atrophy; Neur = neuropathy; Atax = ataxia; Myoc = myoclonus. Results of χ2 analysis: *P<0.05; **P<0.01; ***P<0.001; ns = not statistically significant.
Reproduced with permission from Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997; 120:1713–1721. © Oxford University Press.
