MSTO1-related Autosomal Recessive Mitochondrial Myopathy and Ataxia Syndrome: A Case Series and Description of Phenotypes (P2-6.012)
We report the genotype and phenotype in three patients with an ultra-rare autosomal recessive myopathy caused by biallelic pathogenic or likely pathogenic variants in MSTO1.
Authors
- Duygu Selcen (ORCID: https://orcid.org/0009-0009-1765-1866)
- Lisa A. Schimmenti (ORCID: https://orcid.org/0000-0003-3154-4249)
- Filippo Pinto e Vairo (ORCID: https://orcid.org/0000-0001-6030-1903)
- Radhika Dhamija (ORCID: https://orcid.org/0000-0001-8052-2586)
- Rishi Sharma (ORCID: https://orcid.org/0000-0002-0459-1333)
- Benn Smith
Institutions
- WinnMed (US)
- Mayo Clinic in Arizona (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000210943
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00