Muscular dystrophies are primary diseases of muscle due to mutations in more than 40
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …

Emery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly
important to diagnose due to frequent life‐threatening cardiac complications. EDMD …

Autophagy is a critical process in the regulation of muscle mass, function and integrity. The
molecular mechanisms regulating autophagy are complex and still partly understood. Here …

Skeletal muscle and the nervous system depend on efficient protein quality control, and they
express chaperones and cochaperones at high levels to maintain protein homeostasis …

The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in
their phenotypical expression of pelvic and shoulder area weakness and wasting. More than …

Purpose Limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous
category of autosomal inherited muscle diseases. Many genes causing LGMD have been …

Purpose Several hundred genetic muscle diseases have been described, all of which are
rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging …

Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical
diagnostic testing, including exome sequencing. Some may harbor previously undetected …

Mutations in ANO5 (TMEM16E) cause limb-girdle muscular dystrophy R12. Defective
plasma membrane repair is a likely mechanism. Using myofibers from Ano5 knockout mice …

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 …