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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...

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Detalles Bibliográficos
Autores principales: Finsterer, Josef, Pölzl, Gerhard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
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