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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...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group
2014
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| Gaiak: | |
| Sarrera elektronikoa: | 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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