Carrier detection in Duchenne muscular dystrophy
| Autor: | D W Marriott, J Mayhew, W G Reeves, J I McLachlan, A M Woolfson, J S Fitzsimmons |
|---|---|
| Rok vydání: | 1980 |
| Předmět: |
Male
medicine.medical_specialty Lymphocyte Duchenne muscular dystrophy Genetic Carrier Screening Immunologic Capping Muscular Dystrophies chemistry.chemical_compound Internal medicine Genetics Humans Medicine Lymphocytes Creatine Kinase Genetics (clinical) biology Myoglobin business.industry medicine.disease Endocrinology medicine.anatomical_structure chemistry biology.protein Serum creatine kinase Female Creatine kinase Myoglobinaemia business Research Article |
| Zdroj: | Journal of Medical Genetics. 17:165-169 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.17.3.165 |
| Popis: | Serum creatine kinase, myoglobin, and percentage lymphocyte capping was determined in ten patients with Duchenne muscular dystrophy, 12 carriers (nine definite and three probable), 16 other female relatives, and eight normal controls. There was no detectable difference in lymphocyte capping ability between any of these clinical groups. Significant myoglobinaemia was present in all the affected males, but the difference in levels between carriers and controls suggested that this test has no advantage over creatine kinase estimations in carrier detection. |
| Databáze: | OpenAIRE |
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