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Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy
Mutations in the lamin A/C (LMNA) gene cause significant disruption to skeletal and myocardial muscle, as well as nervous tissue. We describe a case illustrating varied manifestations of a LMNA mutation and the implications for diagnosis and management. We turn to several family studies that describ...
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| Główni autorzy: | , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMJ Publishing Group
2013
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3603541/ https://ncbi.nlm.nih.gov/pubmed/23329710 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007574 |
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