Fucose is a 6-deoxy hexose in the l-configuration found in a large variety of different
organisms. In mammals, fucose is incorporated into N-glycans, O-glycans and glycolipids by …

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 stem cells have a central role in muscle growth and regeneration. They
reside as quiescent cells in resting muscle and in response to damage they transiently …

Multiple EGF-like domains 10 (Megf10) is a class F scavenger receptor (SR-F3) expressed
on astrocytes and myosatellite cells, and recessive mutations in humans result in early-onset …

Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (ie they are no
longer able to divide) and perform muscle contraction. They are formed by fusion of muscle …

Core myopathies (CM), the main non-dystrophic myopathies in childhood, remain
genetically unexplained in many cases. Heart disease is not considered part of the typical …

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

Our understanding of genes that cause skeletal muscle disease has increased
tremendously over the past three decades. Advances in approaches to genetics and …

Muscular dystrophies and congenital myopathies arise from specific genetic mutations
causing skeletal muscle weakness that reduces quality of life. Muscle health relies on …

The Notch signaling pathway is a key regulator of skeletal muscle development and
regeneration. Over the past decade, the discoveries of three new muscle disease genes …