ArticleThe American journal of pathology2003
Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy.
Article in The American journal of pathology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Protein Phosphorylation Alterations in Myotonic Dystrophy Type 1: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy.PloS one · 2026Article
- Differential pathology and susceptibility to MBNL loss across muscles in myotonic dystrophy mouse models.JCI insight · 2025Article
- In Vivo-Like Scaffold-Free 3D In Vitro Models of Muscular Dystrophies: The Case for Anchored Cell Sheet Engineering in Personalized Medicine.Advanced healthcare materials · 2025Article
- Skeletal muscle disorders as risk factors for type 2 diabetes.Molecular and cellular endocrinology · 2025Review
- Review
- Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels.Frontiers in physiology · 2023Article
- Promising AAV.U7snRNAs vectors targetingFrontiers in cell and developmental biology · 2023Article
- Clinical and Molecular Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2.International journal of molecular sciences · 2022Review
- Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes.Nature communications · 2022Article
- Insulin Signaling as a Key Moderator in Myotonic Dystrophy Type 1.Frontiers in neurology · 2019Review
- Cells of Matter-Frontiers in neurology · 2018Review
- LOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies.International journal of molecular sciences · 2017Review
- A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle.Human molecular genetics · 2016Article
- Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1.Disease models & mechanisms · 2014Article
- Myotonic dystrophy protein kinase is critical for nuclear envelope integrity.The Journal of biological chemistry · 2011Article
- HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1.Current chemical genomics · 2010Article
- Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.Developmental dynamics : an official publication of the American Association of Anatomists · 2010Article
- Potassium currents in human myogenic cells from healthy and congenital myotonic dystrophy foetuses.Cellular & molecular biology letters · 2009Article
- Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.The American journal of pathology · 2009Article
Corrections and comments
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Authors and funding
5 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotonic dystrophy (DM1) is caused by the expansion of a CTG repeat in the noncoding region of a protein kinase, DMPK, expressed in skeletal and cardiac muscles. The aim of the present study was to determine the effects of very large CTG expansions on DMPK expression and skeletal muscle development. In fetuses suffering from the severe congenital form of DM1 with large CTG expansions (1800 to 3700 repeats), the skeletal muscle level of DMPK was reduced to 57% of control levels and a similar reduction was observed in cultured DM1 muscle cells relative to control cultures. These results are consistent with greatly reduced DMPK expression from the mutant allele and normal expression from the unaffected allele in this autosomal dominant disorder. In normal fetuses, DMPK protein levels increased dramatically between 9 and 16 weeks and remained high throughout the remaining gestation period. DM1 fetuses showed impaired skeletal muscle development, characterized by a persistence of embryonic and fetal myosin heavy chains and almost total absence of slow myosin heavy chains at the end of gestation. DMPK expression, however, was similar in both fast and slow fibers from normal adult muscle. The reduced DMPK and the delayed slow fiber maturation in congenital DM1 may be two separate consequences of nuclear retention of DMPK RNA transcripts with expanded CUG repeats.
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