Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

BACKGROUND: We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC). This study was focused on the identification of the responsible gene/s....

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Detalles Bibliográficos
Autores principales: Esposito, Teresa, Sampaolo, Simone, Limongelli, Giuseppe, Varone, Antonio, Formicola, Daniela, Diodato, Daria, Farina, Olimpia, Napolitano, Filomena, Pacileo, Giuseppe, Gianfrancesco, Fernando, Di Iorio, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695851/
https://www.ncbi.nlm.nih.gov/pubmed/23800289
http://dx.doi.org/10.1186/1750-1172-8-91

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695851/
https://www.ncbi.nlm.nih.gov/pubmed/23800289
http://dx.doi.org/10.1186/1750-1172-8-91

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