ArticleAmerican journal of human genetics2018
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03059420 (Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders), which is not on this map. Cited by 12 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.
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Control of Gene Expression by Proteins That Bind Many Alternative Nucleic Acid Structures Through the Same Domain.International journal of molecular sciences · 2025Article
- Identification of a Novel Frameshift Variant inGenes · 2024Article
- A high-quality genome assembly highlights the evolutionary history of the great bustard (Otis tarda, Otidiformes).Communications biology · 2023Article
- Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.International journal of molecular sciences · 2022Article
- The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis.Cell regeneration (London, England) · 2022Article
- Development of Nystagmus With the Absence of MYOD Expression in the Extraocular Muscles.Investigative ophthalmology & visual science · 2021Article
- Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.Annual review of vision science · 2021Review
- Case Report: A Novel Homozygous Mutation inFrontiers in genetics · 2021Article
- Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.Molecular genetics & genomic medicine · 2020Article
- IncreasedJournal of medical genetics · 2020Article
- Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- The SNPs in myoD gene from normal muscle developing individuals have no effect on muscle mass.BMC genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages of myogenesis. Here, we report three consanguineous families with biallelic homozygous loss-of-function mutations in MYF5 who define a clinical disorder characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies. The clinical phenotype overlaps strikingly with that reported in several Myf5 knockout mouse models. Affected members of two families share a haploidentical region that contains a homozygous 10 bp frameshift mutation in exon 1 of MYF5 (c.23_32delAGTTCTCACC [p.Gln8Leufs
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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.