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Mutations at the Same Amino Acid in Myosin that Cause Either Skeletal or Cardiac Myopathy Have Distinct Molecular Phenotypes
To date, more than 230 disease causing mutations have been linked to the slow/cardiac muscle myosin gene, β-MyHC (MYH7). The majority of these mutations are located in the globular head region of the protein and result in cardiomyopathies. Recently, however, a number of novel disease causing mutatio...
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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2009
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2854248/ https://ncbi.nlm.nih.gov/pubmed/19854198 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.yjmcc.2009.10.011 |
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