The nemaline myopathies constitute a large proportion of the congenital or structural
myopathies. Common to all patients is muscle weakness and the presence in the muscle …

Small angle X-ray fiber diffraction is the method of choice for obtaining molecular level
structural information from striated muscle fibers under hydrated physiological conditions …

Myocyte disarray is a hallmark of many cardiac disorders. However, the relationship
between alterations in the orientation of individual myofibrils and myofilaments to disease …

Nemaline myopathy is one of the most common non-dystrophic congenital myopathies.
Individuals affected by this condition experience muscle weakness and muscle smallness …

Nemaline myopathy (NM) is a rare neuromuscular disorder associated with congenital or
childhood-onset of skeletal muscle weakness and hypotonia, which results in limited motor …

Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in
physiological processes such as regulating thin filament length (TFL), cross-bridge cycling …

Congenital myopathies (CMs) are a kind of non-progressive or slow-progressive muscle
diseases caused by genetic mutations, which are currently defined and categorized mainly …

Pathogenic variants in the titin gene (TTN) are known to cause a wide range of cardiac and
musculoskeletal disorders, with skeletal myopathy mostly attributed to biallelic variants. We …

Nebulin is a skeletal muscle protein that associates with the sarcomeric thin filaments and
has functions in regulating the length of the thin filament and the structure of the Z-disk. Here …

There is a growing appreciation that regulation of muscle contraction requires both thin
filament and thick filament activation in order to fully activate the sarcomere. The prevailing …