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AB091. Analysis of LA2 as a functional candidate gene for Emery Dreifuss muscular dystrophy and dilated cardiomyopathy
Laminopathies are rare genetic disorders caused by mutations in genes encoding lamins or lamin-interacting proteins. LMNA, EDM and to a lower measure the Nesprin genes have been associated with Emery Dreifuss muscular dystrophy (EDMD), characterized by contractures of the Achilles tendons, progressi...
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Veröffentlicht in: | Ann Transl Med |
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Hauptverfasser: | , , , , |
Format: | Artigo |
Sprache: | Inglês |
Veröffentlicht: |
AME Publishing Company
2015
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Schlagworte: | |
Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4563443/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB091 |
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