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Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree
Nemaline myopathy (NM) is genetically heterogeneous disorder characterized by early onset muscular weakness and sarcoplasmatic or intranuclear inclusions of rod-shaped Z-disk material in muscle fibers. Thus far, mutations in seven genes have been identified as cause of NM. Only one singleTNNT1 nonse...
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| Hlavní autoři: | , , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wiley Periodicals, Inc.
2014
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3960055/ https://ncbi.nlm.nih.gov/pubmed/24689076 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.52 |
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