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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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Schultz-Rogers, Laura, Ferrer, Alejandro, Dsouza, Nikita R., Zimmermann, Michael T., Smith, Benn E., Klee, Eric W., Dhamija, Radhika
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
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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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