F. Sanarica, P. Mantuano, A. Cozzoli, R. Capogrosso, N. Denora, A. Cutrignelli, E. Conte, A. Giustino, M. De Bellis, G. Camerino, A. De Luca September 10, 2017

Src Tyrosine Kinase (TK), a redox-sensitive protein, is overexpressed in dystrophin-deficient muscles and can be overactive due to excessive production of reactive oxygen species, contributing to β-dystroglycan degradation and reinforcing damaging signaling. Thus, the pharmacological inhibition of Src TK seems a feasible strategy to ameliorate Duchenne muscular dystrophy (DMD).… Read More...

S. Beecroft, R. Choi, C. McLean, M. Olive, M. Ryan, M. Davis, N. Laing, B. Launikonis, G. Ravenscroft September 10, 2017

Tubular aggregates and cylindrical spirals appear to be related entities, both arising from the sarcoplasmic reticulum, and sometimes appearing in the same biopsy. Tubular aggregates are inclusions of regular arrays of membrane tubules, while cylindrical spirals are accumulations of spiral lamellae around a central core.… Read More...

H. Jungbluth September 10, 2017

Excitation-contraction coupling (ECC) is the process whereby an electrical neuronal impulse is converted into myoplasmic Ca2+ release and, ultimately, muscle contraction. The two main players involved in skeletal muscle ECC are the dihydropyridine receptor (DHPR), a voltage-sensing L-type Ca2+ channel located on the transverse tubules, and the skeletal muscle ryanodine receptor (RyR1), the principal sarcoplasmic reticulum (SR) Ca2+ release channel located on the SR face membrane.… Read More...

L. Servais, M. Farrar, R. Finkel, J. Kirschner, F. Muntoni, P. Sun, S. Gheuens, E. Schneider, W. Farwell September 10, 2017

ENDEAR (NCT02193074) is a phase 3, randomized, double-blind, sham-procedure controlled 13-month study to assess the efficacy and safety of nusinersen in infants with SMA. Eligible infants (key criteria: genetic diagnosis of SMA, 2 SMN2 gene copies, symptom onset at ≤6 mos, and age ≤7 mos with no hypoxemia at screening) were randomized (2:1) to receive intrathecal nusinersen (12-mg scaled dose) or sham-procedure.… Read More...

K. Wahbi, C. Chong-Nguyen, V. Algalarrondo, H. Becane, P. Arnaud, D. Furling, G. Bassez, A. Behin, A. Fayssoil, P. Laforêt, T. Stojkovic, B. Eymard, D. Duboc September 10, 2017

In myotonic dystrophy type 1 (DM1), the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. We selected 855 patients with DM1 (women, 51%; median age, 37 years) with genetic testing performed at the moment of their initial cardiac evaluation, out of 1014 patients included in the DM1-Heart Registry between January 2000 and December 2015.… Read More...

B. Allard September 10, 2017

In response to excitation by motor neurons, skeletal muscle fibers develop trains of action potentials that spread along the sarcolemma and in depth along the transverse tubules. Depolarization induces a change in the configuration of a protein complex anchored in the transverse tubular membrane, the dihydropyridine receptor (DHPR), which gets open the ryanodine receptor (RyR) anchored in the membrane of the sarcoplasmic reticulum (SR) in charge of the release of Ca2+ that activates contraction.… Read More...

A. Topf, Y. Azuma, S. Gorokhova, E. O'Connor, A. Porter, E. Harris, T. Evangelista, D. Cox, P. Lorenzoni, G. McMacken, M. Bartoli, D. McArthur, O. Magnusson, A. Abicht, J. Senderek, A. Roos, A. Abicht, H. Lochmüller September 10, 2017

Congenital myasthenic syndrome (CMS) is a clinical and genetic heterogeneous condition caused by defect in the neuromuscular junction and characterised by fatigable muscle weakness, bulbar and ocular symptoms. Over 20 disease causative genes have been reported, however 30% of CMS patients remain genetically undiagnosed, suggesting that many novel CMS are yet to be identified.… Read More...

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