ArticleProceedings of the National Academy of Sciences of the United States of America1992
Point mutations in the dystrophin gene.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 190 citations in OpenAlex.
- Total RNA-seq as a Tool to Study DMD Splicing and Transcriptional Dynamics.Methods in molecular biology (Clifton, N.J.) · 2026Article
- A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy.Frontiers in genetics · 2025Article
- Correction to: Brain dystrophinopathies and cognitive impairment: Pathogenesis, diagnosis, and therapies.Journal of biosciences · 2025Article
- Advances in Dystrophinopathy Diagnosis and Therapy.Biomolecules · 2023Review
- Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum.Journal of pediatric genetics · 2021Article
- Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.Indian journal of pediatrics · 2020Article
- The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.PloS one · 2020Article
- Genetic Variations of Ultraconserved Elements in the Human Genome.Omics : a journal of integrative biology · 2019Article
- Peptide-conjugate antisense based splice-correction for Duchenne muscular dystrophy and other neuromuscular diseases.EBioMedicine · 2019Review
- Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.Annals of translational medicine · 2018Article
- Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.Journal of genetics · 2016Article
- Current concepts in dystrophinopathies.Indian journal of pediatrics · 2015Review
- Exon deletion pattern in duchene muscular dystrophy in north west of iran.Iranian journal of child neurology · 2015Article
- Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.International journal of medical sciences · 2014Article
- Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin.Proteins · 2012Article
- Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.Journal of Korean medical science · 2012Article
- The correlation analysis of functional factors and age with duchenne muscular dystrophy.Annals of rehabilitation medicine · 2012Article
- Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.Molecular vision · 2012Article
- Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.International journal of molecular sciences · 2012Review
- Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
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
Defining the range of mutations in genes that cause human disease is essential to determine the mechanisms of genetic variation and the function of gene domains and to perform precise carrier and prenatal diagnosis. The mutations in one-third of Duchenne muscular dystrophy patients remain unknown as they do not involve gross rearrangements of the dystrophin gene. The size and complexity of the gene have prohibited the systematic definition of point mutations. We have developed a method for the identification of these mutations by nested amplification, chemical mismatch detection, and sequencing of reverse transcripts of trace amounts of dystrophin mRNA from peripheral blood lymphocytes. Analysis of the entire coding region (11 kilobases) in seven patients has resulted in detection of a sequence change in each case that is clearly sufficient to cause the disease. All mutations should cause premature translational termination, and the resulting phenotypes are thus equivalent to those caused by frameshifting deletions. The results support a particular functional importance for the C-terminal region of dystrophin. Application of this approach to mutation detection will extend direct carrier and prenatal diagnosis to virtually every affected family.
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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.