Systemic Membrane Defect in the Proximal Muscular Dystrophies
| Autor: | Meinhard Robinow, Walter E. Nance, N A Pickard, Harland L. Verrill, H. D. Gruemer, Barbara M. Goldsmith, Edward R. Isaacs, Edwin C. Myers |
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| Rok vydání: | 1978 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Adolescent T-Lymphocytes Duchenne muscular dystrophy Lymphocyte Receptors Antigen B-Cell Muscular Dystrophies Diagnosis Differential Sex Factors Antigen Internal medicine medicine Membrane fluidity Humans Immunologic Capping Muscular dystrophy Child Receptor Genetics B-Lymphocytes business.industry Heterozygote advantage General Medicine Middle Aged medicine.disease Pedigree medicine.anatomical_structure Endocrinology Microscopy Fluorescence Female Differential diagnosis business |
| Zdroj: | New England Journal of Medicine. 299:841-846 |
| ISSN: | 1533-4406 0028-4793 |
| DOI: | 10.1056/nejm197810192991601 |
| Popis: | We studied lymphocyte capping in 61 patients with Duchenne, Becker, limb-girdle, facioscapulohumeral and congenital muscular dystrophies. All showed a markedly diminished percentage of capped cells when compared with 86 normal controls, providing support for previous evidence that an alteration in membrane fluidity may be a common pathogenic feature in several genetically distinct forms of proximal muscular dystrophy. Heterozygous carriers of Duchenne muscular dystrophy showed diminished capping that was indistinguishable from that of afflicted males and was often present even when serum enzyme levels were normal. Studies in 25 families with 16 suspected sporadic cases indicated that no more than four out of 30 afflicted males may represent new mutations. These findings imply that most cases of Duchenne dystrophy might be prevented by a population screening program for carrier females combined with prenatal detection of afflicted males. |
| Databáze: | OpenAIRE |
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