The immune response to acute muscle damage is important for normal repair. However, in
chronic diseases such as many muscular dystrophies, the immune response can amplify …

Skeletal muscle is the largest organ of human body with several important roles in everyday
movement and metabolic homeostasis. The limited ability of small animal models of muscle …

Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics
within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six …

Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as
dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in …

A novel multiscale modeling framework for skeletal muscles based on analytical and
numerical homogenization methods is presented to study the mechanical muscle response …

The laboratory mouse is the most commonly used mammalian model for biomedical
research. An enormous number of mouse models, such as gene knockout, knockin, and …

Background Duchenne muscular dystrophy (DMD) is caused by mutations of the gene that
encodes the protein dystrophin. A loss of dystrophin leads to severe and progressive muscle …

Aberrant expression of DUX4, a gene unique to humans and primates, causes
Facioscapulohumeral Muscular Dystrophy-1 (FSHD), yet the pathogenic mechanism is …

Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common
myopathies in adults, displaying a progressive, frequently asymmetric involvement of a …

Dysferlinopathy is a progressive muscle disorder that includes limb-girdle muscular
dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin …