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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A00012871" target="_blank" >RIV/00216208:11110/13:00012871 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/13:00012871 RIV/00064203:_____/13:00012871 RIV/00064165:_____/13:00012871
Result on the web
<a href="http://dx.doi.org/10.1016/j.ymgme.2012.11.002" target="_blank" >http://dx.doi.org/10.1016/j.ymgme.2012.11.002</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ymgme.2012.11.002" target="_blank" >10.1016/j.ymgme.2012.11.002</a>

Result language
angličtina
Original language name
Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene
Original language description
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 muscleweakness at the age of 22years.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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