Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy
| Autor: | Marianne de Visser, Ieke B. Ginjaar, E. M. Hoogerwaard, Egbert Bakker |
|---|---|
| Přispěvatelé: | Neurology |
| Rok vydání: | 2005 |
| Předmět: |
Adult
musculoskeletal diseases Muscle tissue Heterozygote congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Biopsy Duchenne muscular dystrophy Dystrophin Internal medicine medicine Humans Genetic Predisposition to Disease Prospective Studies Muscular dystrophy Muscle Skeletal Muscle Weakness medicine.diagnostic_test biology business.industry Myocardium Muscle weakness Dilated cardiomyopathy Heterozygote advantage Middle Aged musculoskeletal system medicine.disease nervous system diseases Muscular Dystrophy Duchenne Cross-Sectional Studies Endocrinology medicine.anatomical_structure biology.protein Female Neurology (clinical) medicine.symptom Cardiomyopathies business |
| Zdroj: | Neurology, 65(12), 1984-1986. Lippincott Williams and Wilkins |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/01.wnl.0000188909.89849.59 |
| Popis: | Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in DMD/BMD carriers were found. Because 26% of nonmanifesting carriers have dystrophin-negative fibers, this might be used in suspected DMD/BMD carriers in whom DNA analysis fails to give an answer about their carrier risk. |
| Databáze: | OpenAIRE |
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