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Muscle fibrillin deficiency in Marfan's syndrome myopathy
Objective: To report a family with Marfan's syndrome in whom a myopathy was associated with respiratory failure; muscle biopsies from affected individuals were examined to determine whether there were abnormalities in fibrillin. Methods: 21 family members underwent detailed clinical examination...
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| Główni autorzy: | , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMJ Group
2003
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1738457/ https://ncbi.nlm.nih.gov/pubmed/12700307 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.74.5.633 |
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