A G613A missense in the Hutchinson’s progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block

BACKGROUND: LMNA/C mutations have been linked to the premature aging syndrome Hutchinson’s progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1,...

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Detalles Bibliográficos
Autores principales: Villa, Francesco, Maciąg, Anna, Spinelli, Chiara C, Ferrario, Anna, Carrizzo, Albino, Parisi, Attilio, Torella, Annalaura, Montenero, Chiara, Condorelli, Gianluigi, Vecchione, Carmine, Nigro, Vincenzo, Montenero, Annibale S, Puca, Annibale A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251685/
https://www.ncbi.nlm.nih.gov/pubmed/25469153
http://dx.doi.org/10.1186/s12979-014-0019-3

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