Calpains are a family of proteases that were scientifically recognized earlier than
proteasomes and caspases, but remain enigmatic. However, they are known to participate in …

Calpains are members of a large family of Ca2+-dependent proteolytic enzymes. Some are
tissue-specific; others are ubiquitous. Poised to digest numerous intracellular proteins, their …

Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical
heterogeneity: seven autosomal dominant and 12 autosomal recessive loci have so far been …

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

Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic
basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of …

Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and limb girdle
muscular dystrophies (LGMD) represent a significant proportion of paediatric and adult …

Calpain 3 is a member of the calpain family of calcium-dependent intracellular proteases.
Thirteen years ago it was discovered that mutations in calpain 3 (CAPN3) result in an …

Objective: Inherited myopathies comprise more than 200 different individually rare disease-
subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals …

The limb girdle muscular dystrophies (LGMD) are termed as such as they share the
characteristic feature of muscle weakness predominantly affecting the shoulder and pelvic …

Muscular dystrophies comprise a genetically heterogeneous group of degenerative muscle
disorders characterized by progressive muscle wasting and weakness. Two forms of limb …