Duchenne muscular dystrophy in a girl identified by dystrophin deficiency
| Autor: | Eviatar L, Lipper S, Maytal J, Fox Je, Shanske Al |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
musculoskeletal diseases
Pathology medicine.medical_specialty X Chromosome Chromosomes Human Pair 21 Duchenne muscular dystrophy media_common.quotation_subject Biopsy Immunofluorescence Muscular Dystrophies Dystrophin Internal medicine Medicine Humans Girl Muscular dystrophy Sex Chromosome Aberrations media_common biology medicine.diagnostic_test business.industry Muscles General Medicine medicine.disease Endocrinology Child Preschool Karyotyping Pediatrics Perinatology and Child Health biology.protein Female Neurology (clinical) Antibody business DNA Probes |
| Zdroj: | Neuropediatrics. 22(3) |
| ISSN: | 0174-304X |
| Popis: | We report an isolated case of a girl aged three years six months with Duchenne muscular dystrophy. Analysis of the patient's DNA with a probe covering the DNA gene revealed no deletion. Dystrophin, studied in biopsied muscle from the patient, using antidystrophin antibody in combination with immunofluorescence, was nearly completely absent. In this sporadic case of female muscular dystrophy, the identification of dystrophin-deficient muscle fibers made it possible to establish an accurate diagnosis of DMD affected female. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|