ArticleJournal of neurology2011
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
Article in Journal of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 39 citations in OpenAlex.
- The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.Frontiers in cell and developmental biology · 2022Review
- Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form.Brain sciences · 2020Article
- Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.International journal of molecular sciences · 2020Article
- Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.Scientific reports · 2018Article
- Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.Human mutation · 2018Article
- Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.Journal of multidisciplinary healthcare · 2016Review
- Article
- Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.Neuromolecular medicine · 2014Article
- Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Genes · 2014Article
- Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.BMC medical genetics · 2013Article
- Why mitochondria must fuse to maintain their genome integrity.Antioxidants & redox signaling · 2013Review
- GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.Human mutation · 2013Article
- Mitochondrial dynamics in heart disease.Biochimica et biophysica acta · 2013Review
- Clinical neurogenetics: recent advances.Journal of neurology · 2012Review
- Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.PloS one · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Charcot-Marie-Tooth (CMT) disease is among the most common inherited neurological disorders. Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical signs of first motor neuron involvement, and early onset stroke. Mutations in MFN2 account for up to 20-30% of all axonal CMT type 2 cases. To further investigate the prevalence of MFN2 mutations and to add to the genotypic spectrum, we sequenced all exons of MFN2 in a cohort of 39 CMT2 patients. We identified seven variants, four of which are novel. One previously described change was co-inherited with a PMP22 duplication, which itself causes the demyelinating form CMT1A. Another mutation was a novel in frame deletion, which is a rare occurrence in the genotypic spectrum of MFN2 characterized mainly by missense mutations. Our results confirm a MFN2 mutation rate of ~15-20% in CMT2.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.