Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene
Language English Country United States Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
23206802
DOI
10.1016/j.ymgme.2012.11.002
PII: S1096-7192(12)00412-X
Knihovny.cz E-resources
- MeSH
- Biopsy MeSH
- Humans MeSH
- Mitochondrial Proton-Translocating ATPases genetics MeSH
- Mitochondria metabolism MeSH
- Mutation * MeSH
- Child, Preschool MeSH
- Dogs MeSH
- Muscles pathology MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Child, Preschool MeSH
- Dogs MeSH
- Female MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Mitochondrial Proton-Translocating ATPases MeSH
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.
References provided by Crossref.org
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase
