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

The result's identifiers

  • 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>

Alternative languages

  • 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

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FG - Paediatrics

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2013

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Molecular Genetics and Metabolism

  • ISSN

    1096-7192

  • e-ISSN

  • Volume of the periodical

    108

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    GB - UNITED KINGDOM

  • Number of pages

    4

  • Pages from-to

    102-105

  • UT code for WoS article

    000313859800017

  • EID of the result in the Scopus database