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 …

Skeletal muscle is a highly plastic tissue in the human body that undergoes extensive
adaptation in response to environmental cues, such as physical activity, metabolic …

Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of
congenital myopathies. Historically, RYR1-RM classification and diagnosis have been …

Congenital myopathies are rare and severe genetic diseases affecting the skeletal muscle
function in children and adults. They present a variable spectrum of phenotypes and a …

Abstract SEPN1-related myopathy (SEPN1-RM) is a muscle disorder due to mutations of the
SEPN1 gene, which is characterized by muscle weakness and fatigue leading to scoliosis …

Metabolic homeostasis balances the production and consumption of energetic molecules to
maintain active, healthy cells. Cellular stress, which disrupts metabolism and leads to the …

The sarcoplasmic reticulum of skeletal muscle cells is a highly ordered structure consisting
of an intricate network of tubules and cisternae specialized for regulating Ca2+ homeostasis …

In recent years, growing evidence has suggested a prominent role of oxidative stress in the
pathophysiology of several early-and adult-onset muscle disorders, although effective …

Aging is accompanied by major changes in body composition that can negatively affect
functional status in older adults, including a progressive decrease in muscle mass, strength …

Nemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is
diagnosed on the basis of the presence of nemaline rods on skeletal muscle biopsy …