Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically
inherited myopathies in adults. It is characterized by incomplete penetrance and variable …

Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF
gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different …

Limb-girdle muscular dystrophy (MD) type 2B (LGMD2B) and Duchenne MD (DMD) are
caused by mutations to the Dysferlin and Dystrophin genes, respectively. We have recently …

Aims Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi‐allelic
variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third …

Hereditary myopathies are a group of genetically determined muscle disorders comprising
more than 300 entities. In Chile, there are no specific registries of the distinct forms of these …

Background Dysferlin-deficient limb-girdle muscular dystrophy type 2B (Dysf) mice are
notorious for their mild phenotype. Raising plasma total cholesterol (CHOL) via …

Inclusion body myositis is the most frequent of all LOM. Myotonic dystrophy type 2, FSHD
and oculopharyngeal muscular dystrophy are the most frequent causes of genetic LOM. We …

The precise detection and interpretation of pathogenic DYSF variants are sometimes
challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on …

Dysferlinopathies are a group of limb-girdle muscular dystrophies causing significant
disability in the young population. There is a need for studies on large cohorts to describe …

Dysferlinopathy is a rare group of hereditary muscular dystrophy with an autosomal
recessive mode of inheritance caused by a mutation in the DYSF gene. It encodes for the …