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MSTO1 is a cytoplasmic pro‐mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans
The protein MSTO1 has been localized to mitochondria and linked to mitochondrial morphology, but its specific role has remained unclear. We identified a c.22G > A (p.Val8Met) mutation of MSTO1 in patients with minor physical abnormalities, myopathy, ataxia, and neurodevelopmental impairments. Lac...
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| Gepubliceerd in: | EMBO Mol Med |
|---|---|
| Hoofdauteurs: | , , , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
John Wiley and Sons Inc.
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5494519/ https://ncbi.nlm.nih.gov/pubmed/28554942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201607058 |
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