Dysferlinopathy is an autosomal recessively inherited muscular dystrophy. It is caused by
absence, or disruption, of the skeletal muscle protein dysferlin, and is characterised by …

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 …

Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank
NM_003494. 2) cause Limb Girdle Muscular Dystrophy type 2B (LGMD2B; MIM# 253601; …

Dysferlinopathies are a clinically heterogeneous group of diseases caused by mutations in
the DYSF gene encoding the dysferlin protein. Dysferlin is mostly expressed in muscle …

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 …

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

Background Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B,
Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters …

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 …

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

Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by
mutations in the dysferlin (DYSF) gene. This study presents the clinical features and …