Dysferlin‐deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and
other less frequent phenotypes are a group of recessive disorders called dysferlinopathies …

The genetic diagnosis of LGMD from the present home-made algorithms will move toward
high-throughput diagnostic strategies based on next-generation sequencing (NGS) …

Dysferlin is a 237-kDa transmembrane protein involved in calcium-mediated sarcolemma
resealing. Dysferlin gene mutations cause limb-girdle muscular dystrophy (LGMD) 2B …

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by
mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in …

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive
diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and …

Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin
protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group …

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 …

Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin
(DYSF) gene, encoding the dysferlin protein. DYSF mutations lead to a wide range of …

Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we
described the genetic features of a large cohort of Chinese patients with this disease …

Dysferlinopathy comprises a group of autosomal recessive muscular dystrophies caused by
mutations in the DYSF gene. Due to the large size of the gene and its lack of mutational hot …