The clinical and molecular features of 25 Duchenne (DMD), two intermediate (D/BMD) and three Becker (BMD) muscular dystrophy patients from 26 unrelated families were evaluated. Early psychomotor development was normal in patients with D/BMD and BMD. Learning to walk independently after 15 months of age was a risk sign of DMD in nine (36%) patients. Abnormality in crawling was seen in 13 (54%) patients with DMD. These boys demonstrated initial symptoms earlier than those who learned to crawl normally. Mental retardation was established in five (20%) patients with DMD. Deletions in the dystrophin gene were found in 11 families (48%). They were accumulated (9/11, 82%) in the distal region of the gene.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0387-7604(99)00016-9 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Trends in Opioid Prescriptions to Opioid-Naïve Patients by Oral and Maxillofacial Surgeons in Massachusetts 2012-2022.
J Oral Maxillofac Surg
December 2024
Corresponding Member of the Faculty, Harvard School of Dental Medicine, and Visiting Surgeon, Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston, MA. Electronic address:
Background: Many oral and maxillofacial surgery patients are young, healthy adults who are opioid-naïve. Over-prescribing opioids increases the risk of subsequent misuse and diversion.
Purpose: The purpose of this study was to measure and compare opioid prescriptions to opioid naïve and nonnaïve patients by oral and maxillofacial surgeons in Massachusetts from 2012 to 2022.
The Effect of Genotype Differences on Cardiac Involvement in Cases Diagnosed with Duchenne Muscular Dystrophy.
Neuropediatrics
January 2025
Department of Pediatric Cardiology, University of Health Sciences, Tepecik Training and Research Hospital, Izmir, Turkey.
Aim: Duchenne muscular dystrophy (DMD) is the most frequently seen muscular disease in childhood. Cardiac involvement is extremely important in terms of morbidity and mortality in these patients. Different studies have shown that mutations occurring in various exons are cardioprotective or increase cardiac involvement in DMD cases.
View Article and Find Full Text PDFTwo Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.
Int J Mol Sci
December 2024
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, 119334 Moscow, Russia.
Duchenne muscular dystrophy (DMD) is a severe X-linked genetic disorder caused by an array of mutations in the dystrophin gene, with the most commonly mutated regions being exons 48-55. One of the several existing approaches to treat DMD is gene therapy, based on alternative splicing and mutant exon skipping. Testing of such therapy requires animal models that carry mutations homologous to those found in human patients.
View Article and Find Full Text PDFPhase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy.
Cell Rep Med
December 2024
Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8502, Japan. Electronic address:
Duchenne muscular dystrophy (DMD) is a severe muscle disorder caused by mutations in the DMD gene, leading to dystrophin deficiency. Antisense oligonucleotide (ASO)-mediated exon skipping offers potential by partially restoring dystrophin, though current therapies remain mutation specific with limited efficacy. To overcome those limitations, we developed brogidirsen, a dual-targeting ASO composed of two directly connected 12-mer sequences targeting exon 44 using phosphorodiamidate morpholino oligomers.
View Article and Find Full Text PDFSafety and Tolerability of Wharton's Jelly-Derived Mesenchymal Stem Cells for Patients With Duchenne Muscular Dystrophy: A Phase 1 Clinical Study.
J Clin Neurol
January 2025
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Background And Purpose: This study was an open-label, dose-escalation, phase 1 clinical trial to determine the safety and dose of EN001 for patients with Duchenne muscular dystrophy (DMD). EN001, developed by ENCell, are allogeneic early-passage Wharton's jelly-derived mesenchymal stem cells that originate at the umbilical cord, with preclinical studies demonstrating their high therapeutic efficacy for DMD.
Methods: This phase 1 clinical trial explored the safety and tolerability of EN001 as a potential treatment option for patients with DMD.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!