ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

Figure 1

Pedigree of family with TMEM70 mutation and genetic data. (a) Black symbols indicate affected individuals, half-filled symbols indicate heterozygous individuals, and white symbols indicate phenotypically healthy individuals; circles: female; squares: male; triangle: miscarriage; crossed symbol: patient deceased; double lines: consanguineous marriage. The consanguineous parents had four affected children, two healthy children, and two abortions. The exact time of the miscarriages is not known (star). The half-filled individuals have a confirmed homozygous TMEM70 c.317-2A>G mutation. Sequencing revealed a heterozygous mutation in the mother and child V ((b), sequencing detail of the heterozygous child V, arrow indicates site of mutation) and a homozygous mutation in children I, IV, and VI ((c), sequencing detail of the homozygous child VI, arrow indicates site of mutation). For the affected and deceased child II and the phenotypically healthy child III no genetic information is available.

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(b)

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