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Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant

Two homoplasmic variants in tRNA(Glu) (m.14674T>C/G) are associated with reversible infantile respiratory chain deficiency. This study sought to further characterize the expression of the individual mitochondrial respiratory chain complexes and to describe the natural history of the disease. Seve...

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Detalles Bibliográficos
Autores principales: Roos, Sara, Hedberg‐Oldfors, Carola, Visuttijai, Kittichate, Stein, My, Kollberg, Gittan, Elíasdóttir, Ólöf, Lindberg, Christopher, Darin, Niklas, Oldfors, Anders
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245933/
https://www.ncbi.nlm.nih.gov/pubmed/34806237
http://dx.doi.org/10.1111/bpa.13038