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Maternal health and obstetric complications of genetic neuromuscular disorders in pregnancy: A systematic review.
Eur J Obstet Gynecol Reprod Biol
January 2025
Andhra Medical College, Vishakapatnam, Andhra Pradesh, India.
Article Synopsis
- Genetic neuromuscular disorders significantly impact muscle function and present challenges during pregnancy, necessitating a review of related obstetric outcomes.
- A systematic analysis of 28 studies revealed common complications such as polyhydramnios, preterm labor, and increased rates of cesarean sections among pregnant women with disorders like myotonic dystrophy and spinal muscular atrophy.
- Effective management of these high-risk pregnancies requires collaboration between neurologists and obstetricians, alongside further research to establish standardized care protocols.
Dr. Peter Emil Becker and the Third Reich: Correspondence.
Am J Med Genet A
November 2024
Department of Agricultural Markets, University of Hohenheim, Stuttgart, Germany.
Peter Emil Becker was a German neurologist who is remembered for his studies of muscular dystrophies. Becker muscular dystrophy and Becker myotonia are named after him. His biography appeared in the American Journal of Medical Genetics in 1985.
View Article and Find Full Text PDFLatent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course.
Orphanet J Rare Dis
November 2024
Department of Environmental, Occupational, Geospatial Health Sciences, Graduate School of Public Health and Health Policy, City University of New York, New York, NY, USA.
Background: Myotonic dystrophy type 1 (DM1) is a multisystem genetic disorder that classically presents with symptoms associated with myotonia, early onset cataracts, and muscular weakness, although the presentation and pattern of disease progression is quite varied. Presenting symptoms are well documented among adults with DM1. However, less is known about the co-occurrence of symptoms over time.
View Article and Find Full Text PDFRNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function.
Ann Clin Transl Neurol
December 2024
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, Virginia, 23298, USA.
Article Synopsis
- The study investigates the link between RNA alternative splicing abnormalities and physical function in children with congenital myotonic dystrophy (CDM), a severe form of myotonic dystrophy type 1 (DM1).
- Researchers analyzed data from 82 participants, including adults with DM1 and children with CDM, assessing muscle biopsies, motor function, strength, and myotonia.
- Results showed a significant correlation between myotonia and RNA mis-splicing in all DM1 individuals, while motor performance and strength were associated with splicing dysregulation, aiding future clinical trial designs for DM1 and CDM.
Compound Heterozygous Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive -Related Myopathy.
Int J Mol Sci
October 2024
Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Pathogenic variants in the ryanodine receptor 1 () gene are causative for a wide spectrum of muscular phenotypes, ranging from malignant hyperthermia over mild, non-progressive to severe congenital myopathy. Both autosomal dominant and recessive inheritance can occur, with the more severe forms usually showing recessive inheritance. However, genotype-phenotype correlations are complicated due to the large size of the gene and heterogeneous phenotypes.
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