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Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene

Tomas Honzik, Marketa Tesarova, Kamila Vinsova, Hana Hansikova, Martin Magner, Hana Kratochvilova, Josef Zamecnik, Jiri Zeman, Pavel Jesina

. 2013 ; 108 (1) : 102-105.

Jazyk angličtina Země Spojené státy americké

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc13024083

Grantová podpora
NS9759 MZ0 CEP - Centrální evidence projektů

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.

Citace poskytuje Crossref.org

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$a Tesarova, Marketa $u Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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