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. 2000 Dec 29;68(2):533–536. doi: 10.1086/318190

Figure 1.

Figure 1

Previously unpublished pedigree of a family from the northeast of England, showing the clinical variation among the offspring of a woman who transmitted the heteroplasmic A3243G mtDNA point mutation (MIM 540000). Individual I:2 had offspring that died either in utero (individuals II:1, II:2, and II:4) or <2 h after birth (individual II:3). In addition, individual I:2 had a severely affected child with short stature and bilateral sensorineural deafness who developed a recurrent encephalopathy, strokelike episodes, seizures, ataxia, diabetes mellitus, and a cardiomyopathy in early adult life (individual II:6, now 31 years old); and she had offspring who remain asymptomatic in adult life (individual II:5 [27 years old] and individual II:7 [33 years old]). TM = trimester.