.../ Summary: A skeletal muscle defect is revealed as novel phenotype of Atm- knockout mice, which is relevant for ataxia telangiectasia disease studies and for the role of ATM in oxidative stress, atrophy and aging. Atm Skeletal muscle ROS Atrophy Slow myosin Myopathy Ataxia...

...-specific ablation of the HspB7 does not affect myogenesis during embryonic stages to postnatal day 1 (P1), but causes subsequent postnatal death owing to a respiration defect, with progressive myopathy phenotypes in the diaphragm. Deficiency of HSPB7 in the diaphragm muscle resulted in muscle fibrosis...

...Brendan R. Wilding; Meagan J. McGrath; Gisèle Bonne; Christina A. Mitchell ABSTRACT FHL1 mutations cause several clinically heterogeneous myopathies, including reducing body myopathy (RBM), scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA). The molecular...

... in the pathogenesis of myopathies and muscular dystrophies, and how alteration of these degradative systems contribute to muscle wasting in inherited muscle disorders. We will also discuss how modulating autophagy and proteasome might represent a promising strategy for counteracting muscle loss in different diseases...

...Mirko Völkers; Nima Dolatabadi; Natalie Gude; Patrick Most; Mark A. Sussman; David Hassel Mutations in the store-operated Ca 2+ entry pore protein ORAI1 have been reported to cause myopathies in human patients but the mechanism involved is not known. Cardiomyocytes express ORAI1 but its role...

...Kurt W. Prins; Jarrod A. Call; Dawn A. Lowe; James M. Ervasti Quadriceps myopathy (QM) is a rare form of muscle disease characterized by pathological changes predominately localized to the quadriceps . Although numerous inheritance patterns have been implicated in QM, several QM patients harbor...

..., R. H., Kaufman, S. J. et al. ( 1998 ). Mutations in the integrin alpha7 gene cause congenital myopathy. Nat. Genet. 19 , 94 -97. Huet, C., Li, Z. F., Liu, H. Z., Black, R. A., Galliano, M. F. and Engvall, E. ( 2001 ). Skeletal muscle cell hypertrophy induced by inhibitors...

...Céline F. Costa; Heidi Rommelaere; Davy Waterschoot; Kamaljit K. Sethi; Kristen J. Nowak; Nigel G. Laing; Christophe Ampe; Laura M. Machesky Mutations in the gene encoding α-skeletal-muscle actin, ACTA1 , cause congenital myopathies of various phenotypes that have been studied since...