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Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome

Abstract Background Connective tissue involvement in a mitochondrial disorder has been only rarely reported. Case presentation A 32-year-old female with Leigh-like syndrome extending into adulthood due to the mtDNA variant m.10191 T > C developed various connective tissue abnormalities, which manife...

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Hlavní autoři: Josef Finsterer, Shaundra M. Newstead
Médium: Artigo
Jazyk:Inglês
Vydáno: SpringerOpen 2023-12-01
Edice:Bulletin of the National Research Centre
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On-line přístup:https://doi.org/10.1186/s42269-023-01157-z
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