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Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy
Nemaline myopathy (NM) is a congenital muscle disorder associated with muscle weakness, hypotonia, and rod bodies in the skeletal muscle fibers. Mutations in 10 genes have been implicated in human NM, but spontaneous cases in dogs have not been genetically characterized. We identified a novel recess...
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| I publikationen: | Mamm Genome |
|---|---|
| Huvudupphovsmän: | , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2016
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5100356/ https://ncbi.nlm.nih.gov/pubmed/27215641 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00335-016-9644-9 |
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