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Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes
Mutations in the lamin A/C (LMNA) gene cause a broad range of clinical syndromes that show tissue-restricted abnormalities of post mitotic tissues, such as muscle, nerve, heart, and adipose tissue. Mutations in other nuclear envelope proteins cause clinically overlapping disorders. The majority of m...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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American Physiological Society
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335092/ https://www.ncbi.nlm.nih.gov/pubmed/29750601 http://dx.doi.org/10.1152/physiolgenomics.00128.2017 |