Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle
disorders, which first affect the voluntary muscles of the hip and shoulder areas. The …

Mammalian skeletal muscle shows an enormous variability in its functional features such as
rate of force production, resistance to fatigue, and energy metabolism, with a wide spectrum …

To identify genetic variation underlying atrial fibrillation, the most common cardiac
arrhythmia, we performed a genome-wide association study of> 1,000,000 people, including …

The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited
progressive muscle disorders that affect mainly the proximal musculature, with evidence for …

Muscle–eye–brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD)
are congenital muscular dystrophies with associated, similar brain malformations,. The …

The muscular dystrophies are a group of heterogeneous genetic diseases characterized by
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …

The dystrophin–glycoprotein complex (DGC) is a multisubunit complex that connects the
cytoskeleton of a muscle fiber to its surrounding extracellular matrix. Mutations in the DGC …

Dystrophin is a 427 kDa sub-membrane cytoskeletal protein, associated with the inner
surface membrane and incorporated in a large macromolecular complex of proteins, the …

We used expression profiling to define the pathophysiological cascades involved in the
progression of two muscular dystrophies with known primary biochemical defects …

Duchenne muscular dystrophy (DMD) is a common fatal heritable myopathy, with
cardiorespiratory failure occurring by the third decade of life. There is no specific treatment …