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Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
The term myofibrillar myopathies (MFM) refers to uncommon neuromuscular disorders that pathologically are characterized by myofibrillar degeneration and ectopic expression of several proteins. MFM are partly caused by mutations in genes that encode mainly Z-disk-related proteins (desmin, αB-crystall...
Autores principales: | Vattemi, G., Neri, M., Piffer, S., Vicart, P., Gualandi, F., Marini, M., Guglielmi, V., Filosto, M., Tonin, P., Ferlini, A., Tomelleri, G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pacini Editore SpA
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235861/ https://www.ncbi.nlm.nih.gov/pubmed/22106715 |
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