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Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy
Congenital muscular dystrophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. The observation of megamitochondria in skeletal muscle biopsies is exclusive to this type of MD. The disease is caused by loss of function mutat...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687948/ https://ncbi.nlm.nih.gov/pubmed/31216357 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz068 |
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