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Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
BACKGROUND: Myopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines. Autosomal dominant MYPN mutations cause hypertrophic, dilated, or restrictive cardiomyopathy. Autosomal recessive MYPN mutations hav...
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| Publicado no: | Skelet Muscle |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6535860/ https://ncbi.nlm.nih.gov/pubmed/31133047 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13395-019-0199-9 |
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