Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene

Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene

The four-and-half LIM domain protein 1 (FHL1) is highly expressed in skeletal and cardiac muscle. Mutations of the FHL1 gene have been associated with diverse chronic myopathies including reducing body myopathy (RBM), rigid spine syndrome, and Emery-Dreifuss muscular dystrophy. We investigated a fam...

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Bibliographic Details
Main Authors: Patrizia eSabatelli, Silvia eCastagnaro, Francesca eTagliavini, Martina eChrisam, Francesca eSardone, Laurence eDemay, Pascale eRichard, Spartaco eSanti, Nadir Mario Maraldi, Luciano eMerlini, Marco eSandri, Paolo eBonaldo
Format: Article
Language:English
Published: Frontiers Media S.A. 2014-08-01
Series:Frontiers in Aging Neuroscience
Subjects:
Autophagy
Sarcopenia
protein aggregates
muopathy
FHL1
Online Access:http://journal.frontiersin.org/Journal/10.3389/fnagi.2014.00215/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fnagi.2014.00215/full

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