ArticleNature communications2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
2 registry-linked trialsOpen access · goldAbstract read
In one paragraph
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 67 papers.
0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed
9.7field-weighted citation impact, top 2% of its field
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.
Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Who cites it
67 citing papers in PubMed, 106 citations in OpenAlex.
- Angiogenin mediates cell-cell fusion as a mitochondrial RNA processing enzyme.Bone research · 2026Article
- A Rare Clinical Presentation of Variegate Porphyria.Molecular genetics & genomic medicine · 2026Article
- Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026Article
- Caloric restriction reprograms skeletal muscle molecular pathways in non-human primates: potential relevance to human aging biology.Skeletal muscle · 2026Article
- Myomaker and Myomixer are required for craniofacial myoblast fusion in zebrafish.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Article
- Single-cell transcriptomics reveal mechanisms of skeletal muscle differentiation across duck embryonic development.Communications biology · 2026Article
- Development of a split-toxin CRISPR screening platform to systematically identify regulators of human myoblast fusion.Nature communications · 2026Article
- CHAMP1 is an essential regulator for human myoblast fusion and muscle development.Nature communications · 2026Article
- Dynamic expression and differential requirement of the myocyte fusogen Myomixer during distinct myogenic episodes in the zebrafish.Biology open · 2025Article
- Genetic disruption of satellite cell function underlying congenital myopathies.Journal of human genetics · 2025Review
- Genetics, epidemiology and management of clubfoot and related disorders.Genes & diseases · 2025Review
- Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.European journal of human genetics : EJHG · 2025Article
- Cell-cell fusion: To lose one life and begin another.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Systematic phenotype and genotype characterization of Moebius syndrome.Genetics in medicine open · 2025Article
- Ectopic expression of Myomaker and Myomixer in slow muscle cells induces slow muscle fusion and myofiber death.Journal of genetics and genomics = Yi chuan xue bao · 2024Article
- The proteasome subunit psmb1 is essential for craniofacial cartilage maturation and morphogenesis.JCI insight · 2024Article
- Review
- Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome.Acta neuropathologica communications · 2024Article
- Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.International journal of environmental research and public health · 2024Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
36 authors at 20 institutions in 3 countries.
Silvio Alessandro Di GioiaDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Samantha ConnorsDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
Norisada MatsunamiDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
Jessica CannavinoDepartment of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA.
Matthew F RoseDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Nicole M GiletteDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Pietro ArtoniDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Nara Lygia de Macena SobreiraMcKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Wai-Man ChanDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Bryn D WebbDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029, USA.
Caroline D RobsonDepartment of Radiology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Long ChengDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Carol Van RyzinMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Andres Ramirez-MartinezDepartment of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA.
Payam MohasselNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Mark LeppertDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
Mary Beth ScholandDepartment of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
Christopher GrunseichNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Carlos R FerreiraMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Tyler HartmanDepartment of Pediatrics, Dartmouth-Hitchcock Medical Center, Geisel School of Medicine, Hanover, New Hampshire 03755-1404, USA.
Ian M HayesGenetic Health Services New Zealand, Auckland City Hospital, Auckland 1142, New Zealand.
Tim MorganDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
David M MarkieDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
Michela FagioliniDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Amy SwiftMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Peter S ChinesMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Carlos E Speck-MartinsSARAH Network of Rehabilitation Hospitals, Brasilia 70335-901, Brazil.
Francis S CollinsMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Ethylin Wang JabsMcKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Eric N OlsonDepartment of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA.
Moebius Syndrome Research Consortium
John C CareyDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
Stephen P RobertsonDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
Irini ManoliMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Elizabeth C EngleDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
National Institutes of Health · USBoston Children's Hospital · USIcahn School of Medicine at Mount Sinai · USNational Human Genome Research Institute · USHarvard University · USNational Institutes of Health Clinical Center · USUniversity of Otago · NZUniversity of Utah · USThe University of Texas Southwestern Medical Center · USHoward Hughes Medical Institute · USNational Institute of Neurological Disorders and Stroke · USAuckland City Hospital · NZBroad Institute · USChildren's National · USDartmouth–Hitchcock Medical Center · USHenry M. Jackson Foundation · USJohns Hopkins Medicine · USJohns Hopkins University · USNational Eye Institute · USNational Institute of Biomedical Imaging and Bioengineering · US
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MSYNAPTIC MECHANISMS IN HIPPOCAMPAL EPILEPTOGENESISP30HD018655 · NICHD · CHILDREN'S HOSPITAL BOSTON · PI WOOLF, CLIFFORD J · 1985 to 2015
$26.2MUniversity of Utah Center for Clinical and Translational ScienceUL1TR001067 · NCATS · UNIVERSITY OF UTAH · PI DERE, WILLARD H., HESS, RACHEL · 2013 to 2017
$19.8MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MCraniofacial Anomalies and RegenerationZIADE000746 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI LEE, JANICE · 2015 to 2025
$12.3MTRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0MMouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI KUNKEL, LOUIS M · 2016 to 2020
$5.2MNeuro-ophthalmic Mechanisms Of DiseaseZIAEY000388 · NEI · NATIONAL EYE INSTITUTE · PI FITZGIBBON, EDMOND J · 2009 to 2023
$5.1MGenetics of Moebius syndrome and other congenital facial weakness disordersZIAHG200389 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI COLLINS, FRANCIS S. · 2013 to 2024
$4.9MMapping Brainstem Motor Neuron Subtypes and Genetic Pathways Involved in their Differential Susceptibility to DiseaseK08NS099502 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI ROSE, MATTHEW F · 2017 to 2021
$1.2MBirth Defects: Moebius syndrome and related facial weakness disordersU01HD079068 · NICHD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BROOKS, BRIAN PATRICK, ENGLE, ELIZABETH C. · 2014 to 2016
$1.1MNCATS NIH HHS UL1 TR001067NHGRI NIH HHS U54 HG006542NICHD NIH HHS P30 HD018655NICHD NIH HHS U01 HD079068NICHD NIH HHS U54 HD090255NIGMS NIH HHS T32 GM007748NINDS NIH HHS K08 NS099502
Abstract
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes. We show that a heterologous cell fusion assay in vitro and allelic complementation experiments in mymk knockdown and mymk
Indexed as
MutationAdultAmino Acid SequenceAnimalsCell FusionChildDisease Models, AnimalEmbryo, NonmammalianFemaleGene ExpressionGenes, RecessiveGenetic Complementation TestHumansInfantMaleMembrane ProteinsMembrane ProteinsMuscle ProteinsMYMK protein, humanmymk protein, zebrafishZebrafish Proteins
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
NCT02055248ClinicalTrials.gov
NCT03059420ClinicalTrials.gov
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.