ArticleNeurology. Genetics2018
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.
Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 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
- Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.Annals of neurology · 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
- Review
- Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome.Acta neuropathologica communications · 2024Article
- Molecular regulation of myocyte fusion.Current topics in developmental biology · 2024Review
- Cryo-EM structures of Myomaker reveal a molecular basis for myoblast fusion.Nature structural & molecular biology · 2023Article
- Loss of Myomixer Results in Defective Myoblast Fusion, Impaired Muscle Growth, and Severe Myopathy in Zebrafish.Marine biotechnology (New York, N.Y.) · 2022Article
- Regulation of the myoblast fusion reaction for muscle development, regeneration, and adaptations.Experimental cell research · 2022Article
- Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.The Journal of clinical investigation · 2022Article
- Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Experimental cell research · 2022Article
- Human myotube formation is determined by MyoD-Myomixer/Myomaker axis.Science advances · 2020Article
- Cell fusion is differentially regulated in zebrafish post-embryonic slow and fast muscle.Developmental biology · 2020Article
- The regulatory role of Myomaker and Myomixer-Myomerger-Minion in muscle development and regeneration.Cellular and molecular life sciences : CMLS · 2020Review
- Cell Fusion: Merging Membranes and Making Muscle.Trends in cell biology · 2019Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo describe the long-term clinical follow-up in 3 siblings with Carey-Fineman-Ziter syndrome (CFZS), a form of congenital myopathy with a novel mutation in the myomaker gene (
methodsWe performed clinical investigations, repeat muscle biopsy in 2 of the siblings at ages ranging from 11 months to 18 years, and whole-genome sequencing.
resultsAll the siblings had a marked and characteristic facial weakness and variable dysmorphic features affecting the face, hands, and feet, and short stature. They had experienced muscle hypotonia and generalized muscle weakness since early childhood. The muscle biopsies revealed, as the only major abnormality at all ages, a marked hypertrophy of both type 1 and type 2 fibers with more than twice the diameter of that in age-matched controls. Genetic analysis revealed biallelic mutations in the
conclusionsOur study expands the genetic and clinical spectrum of
Identifiers
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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.