Duchenne Muscular Dystrophy in a 46 XY Female
| Autor: | R.R. Skoglund, E.A. Wulfsberg |
|---|---|
| Rok vydání: | 1986 |
| Předmět: |
musculoskeletal diseases
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty business.industry Duchenne muscular dystrophy XY karyotype medicine.disease Muscular Dystrophies 03 medical and health sciences 0302 clinical medicine Xy female Dmd gene Karyotyping 030225 pediatrics Pediatrics Perinatology and Child Health Turner syndrome Humans Medicine Female Muscular dystrophy Child business Sex Chromosome Aberrations |
| Zdroj: | Clinical Pediatrics. 25:276-278 |
| ISSN: | 1938-2707 0009-9228 |
| Popis: | The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is an X-linked disorder that ordinarily has full clinical expression only in males. Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive muscular dystrophy as well as in females with X-chromosome abnormalities such as the Turner syndrome. A girl with full expression of DMD due to a 46 XY karyotype is reported, and other clinical conditions in which expression of the DMD gene occurs in females are reviewed. |
| Databáze: | OpenAIRE |
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