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Novel biallelic variants in MSTO1 associated with mitochondrial myopathy
Mitochondrial disorders are caused by nuclear and mitochondrial pathogenic variants leading to defects in mitochondrial function and cellular respiration. Recently, the nuclear-encoded mitochondrial fusion gene MSTO1 (Misato 1) has been implicated in mitochondrial myopathy and ataxia. Here we report...
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| Publicado no: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6913144/ https://ncbi.nlm.nih.gov/pubmed/31604776 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004309 |
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