A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case

BACKGROUND: Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A...

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Detalles Bibliográficos
Autores principales: Iwahara, Naotoshi, Hisahara, Shin, Hayashi, Takashi, Kawamata, Jun, Shimohama, Shun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342086/
https://www.ncbi.nlm.nih.gov/pubmed/25886484
http://dx.doi.org/10.1186/s12883-015-0269-5

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