The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Membranes are flexible barriers that surround the cell and its compartments. To execute vital
functions such as locomotion or receptor turnover, cells need to control the shapes of their …

Viable Alzheimer's disease (AD) hypotheses must account for its age-dependence;
commonality; association with amyloid precursor protein, tau, and apolipoprotein E biology; …

Myotonic dystrophy is the most common muscular dystrophy in adults and the first
recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) …

Congenital myopathies are a group of genetic muscle disorders characterized clinically by
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …

Amphiphysin 2, also named bridging integrator-1 (BIN1) or SH3P9, has been recently
implicated in rare and common diseases affecting different tissues and physiological …

In skeletal muscle, the excitation-contraction (EC) coupling machinery mediates the
translation of the action potential transmitted by the nerve into intracellular calcium release …

Centronuclear myopathies (CNM) are congenital disorders associated with muscle
weakness and abnormally located nuclei in skeletal muscle. An autosomal dominant form of …

To alter and adjust the shape of the plasma membrane, cells harness various mechanisms
of curvature generation. Many of these curvature generation mechanisms rely on the …

Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle
weakness and structural defects including fiber hypotrophy and organelle mispositioning …