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Desmin splice variants causing cardiac and skeletal myopathy
Desmin myopathy is a hereditary or sporadic cardiac and skeletal myopathy characterised by intracytoplasmic accumulation of desmin reactive deposits in muscle cells. We have characterised novel splice site mutations in the gene desmin resulting in deletion of the entire exon 3 during the pre-mRNA sp...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2000
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734475/ https://ncbi.nlm.nih.gov/pubmed/11073539 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.11.851 |
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