title: Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.
abstract: 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 and hypotonia were present in a 3-year-old girl with a high mtDNA mutation load (87-97%). Ataxia and Leigh syndrome were subsequently documented in a neurological examination and brain MRI. A muscle biopsy demonstrated decreased ATP synthase and an accumulation of succinate dehydrogenase products, indicating mitochondrial myopathy. Her 36-year-old mother (68% blood heteroplasmy) developed peripheral neuropathy and muscle weakness at the age of 22 years. Our findings extend the clinical and laboratory phenotype associated with the m.8851T>C mutation.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
authors.forename: Tomas
authors.initials: T
authors.lastname: Honzik
authors.forename: Marketa
authors.initials: M
authors.lastname: Tesarova
authors.forename: Kamila
authors.initials: K
authors.lastname: Vinsova
authors.forename: Hana
authors.initials: H
authors.lastname: Hansikova
authors.forename: Martin
authors.initials: M
authors.lastname: Magner
authors.forename: Hana
authors.initials: H
authors.lastname: Kratochvilova
authors.forename: Josef
authors.initials: J
authors.lastname: Zamecnik
authors.forename: Jiri
authors.initials: J
authors.lastname: Zeman
authors.forename: Pavel
authors.initials: P
authors.lastname: Jesina
mesh_terms: D000818:Animals; D001706:Biopsy; D002675:Child, Preschool; D004285:Dogs; D005260:Female; D006801:Humans; D008928:Mitochondria / Q000378:metabolism*; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D009132:Muscles / Q000473:pathology*; D009154:Mutation
chemical_list: D025261:Mitochondrial Proton-Translocating ATPases