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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Isolated metabolic myopathies encompass a heterogeneous group of disorders, with mitochondrial myopathies being a subgroup, with depleted skeletal muscle energy production manifesting either by recurrent episodes of myoglobinuria or progressive muscle weakness. In this study, we investigated the gen...

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Détails bibliographiques
Auteurs principaux: Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2014
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4060119/
https://ncbi.nlm.nih.gov/pubmed/24281368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.269
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