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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 en: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: Cold Spring Harbor Laboratory Press 2019
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Acceso en liña: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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