Publications by authors named "N O Illum"
Background: Duchenne Muscular Dystrophy (DMD) is a progressive genetic disease with a prevalence of 1 per 3,600-6,000 male births. Individuals with DMD are typically diagnosed at age 4-7 years; median survival is 30 years. They require multidisciplinary care, personal assistance, and often special education.
View Article and Find Full Text PDFDisease causing variants in the Ryanodine receptor 1 (RYR1) gene are a common cause for congenital myopathy and for malignant hyperthermia susceptibility. We report a 17 year old boy with congenital muscle weakness progressing to a myasthenia like myopathy with muscle weakness, fatigability, ptosis, and ophthalmoplegia. Muscle biopsy showed predominance and atrophy of type 1 fibers.
View Article and Find Full Text PDFArticle Synopsis
- - The YTHDF3 gene is crucial for reading a specific mRNA modification that affects mRNA stability and is necessary for normal brain development in animals.
- - Despite a link to intellectual disabilities, YTHDF3 has not been previously recognized as a cause of Mendelian diseases, although studies suggest it may be important.
- - Researchers found four cases of individuals with deletions affecting YTHDF3 who exhibited developmental delays and intellectual disabilities, proposing that losing one copy of this gene may lead to these neurodevelopmental issues.
Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1.
View Article and Find Full Text PDFAim: To describe a population of children with Down syndrome and evaluate their parents' assessment of disability.
Methods: Medical records of a population of 80 children with Down syndrome aged 5 to 17 years were analyzed for genetic background and associated diagnoses. And 27 parents to their children agreed to assess disability by employing a set of 26 International Classification of Functioning, Disability and Health body function (b) codes and activity and participation (d) codes.