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Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features
LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging s...
Autores principales: | Maggi, Lorenzo, Carboni, Nicola, Bernasconi, Pia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040975/ https://www.ncbi.nlm.nih.gov/pubmed/27529282 http://dx.doi.org/10.3390/cells5030033 |
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