ArticleJournal of human genetics2018
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- MSTO1 functions as a TRiC assembly factor linking cytosolic proteostasis to mitochondrial function.bioRxiv : the preprint server for biology · 2026Article
- Mild-cerebellar ataxia due to impaired mitochondrial function caused by theFrontiers in neuroscience · 2026Article
- Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.Documenta ophthalmologica. Advances in ophthalmology · 2025Review
- Genome-Wide Association Study for Weight-Related Traits inAnimals : an open access journal from MDPI · 2025Article
- Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.BMC musculoskeletal disorders · 2025Article
- Indentification of novelFrontiers in neurology · 2022Article
- Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygousFrontiers in genetics · 2022Article
- A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.Journal of human genetics · 2021Article
- Review
- Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects.Diagnostics (Basel, Switzerland) · 2020Review
- The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes.Life (Basel, Switzerland) · 2020Review
- Novel biallelic variants inCold Spring Harbor molecular case studies · 2019Article
- MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.Acta neuropathologica · 2019Article
- Transcriptomic Analysis of Zebrafish TDP-43 Transgenic Lines.Frontiers in molecular neuroscience · 2018Article
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Misato 1, mitochondrial distribution and morphology regulator (encoded by the MSTO1 gene), is involved in mitochondrial distribution and morphology. Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. Both autosomal dominant and recessive modes of inheritance have been suggested. We performed whole-exome sequencing in two unrelated patients showing cerebellar atrophy, intellectual disability, and pigmentary retinopathy. Three novel mutations were identified: c.836 G > A (p.Arg279His), c.1099-1 G > A (p.Val367Trpfs*2), and c.79 C > T (p.Gln27*). Both patients had compound heterozygous mutations with a combination of protein-truncation mutation and missense mutation, the latter shared by them both. This survey of two patients with recessive and novel MSTO1 mutations provides additional clinical and genetic information on the pathogenicity of MSTO1 in humans.
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