Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene
2013
Abstrakt
We report the second known family with a very rare, maternally inherited missense m.8851T>C mutation in the mitochondrial MTATP6 gene. A failure to thrive, microcephaly, psychomotor retardation, ataxia, hypotonia and Leigh syndrome were present in a 3-year-old girl with a high mtDNA mutation load (87-97%).
A muscle biopsy demonstrated decreased ATP synthase and an accumulation of succinate dehydrogenase products. Her 36-year-old mother (68% blood heteroplasmy) developed peripheral neuropathy and muscle weakness at the age of 22years.