Dystrophin Expression in Duchenne Patients with 'In-Frame' Gene Deletions
| Autor: | Kate Bushby, I. B. Ginjaar, Louise V.B. Nicholson, D. Gardner-Medwin, Margaret A. Johnson |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Male
musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Chromosomes Human Pair 21 Biopsy Duchenne muscular dystrophy Blotting Western Gene Expression Biology Muscular Dystrophies Dystrophin Pathogenesis Open Reading Frames Exon Gene expression medicine Humans Muscular dystrophy Child Gene Muscles Exons General Medicine medicine.disease Open reading frame Child Preschool Pediatrics Perinatology and Child Health biology.protein Neurology (clinical) Gene Deletion |
| Zdroj: | Neuropediatrics. 24:93-97 |
| ISSN: | 1439-1899 0174-304X |
| DOI: | 10.1055/s-2008-1071521 |
| Popis: | Details of disease progression and dystrophin expression are presented for three patients with Duchenne muscular dystrophy (DMD) who unexpectedly had intragenic deletions which maintained the open reading frame for mRNA translation. Analysis of dystrophin in muscle biopsies showed variable dystrophin synthesis in all three patients. Two with relatively small deletions (missing exons 10-13 and 52-55) had low levels of dystrophin which were comparable to those found in many DMD patients. The third patient (with a larger deletion which removed exons 3-25) produced dystrophin in the high abundance which is normally associated with patients who have Becker muscular dystrophy. This is the first time that a patient has been described with the clinical phenotype of DMD, a large amount of dystrophin which was correctly localized at the periphery of muscle fibres and an in-frame deletion of exons in the amino terminal domain. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|