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Novel Phenotype of LMNA Variant c.154C>G Affecting Heart, Liver, and Lipid and Iron Metabolism: A Case Report
Mutations in the LMNA gene cause heterogeneous phenotypes such as myopathy, progeroid syndromes, hereditary neuropathies, cardiomyopathies, or lipodystrophies. A specific LMNA mutation manifesting as dilated cardiomyopathy (dCMP), and iron metabolism disorder has not been reported. The patient is a...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256956/ https://www.ncbi.nlm.nih.gov/pubmed/37303410 http://dx.doi.org/10.7759/cureus.38860 |