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Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene
Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differ...
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| Pubblicato in: | Neuromuscul Disord |
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| Autori principali: | , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2007
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5127195/ https://ncbi.nlm.nih.gov/pubmed/17418574 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2007.02.009 |
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