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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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Detalles Bibliográficos
Autores principales:	Schultz-Rogers, Laura, Ferrer, Alejandro, Dsouza, Nikita R., Zimmermann, Michael T., Smith, Benn E., Klee, Eric W., Dhamija, Radhika
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2019
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913144/ https://www.ncbi.nlm.nih.gov/pubmed/31604776 http://dx.doi.org/10.1101/mcs.a004309

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