Recently, a single gene, DYSF, has been identified which is mutated in patients with limb-
girdle muscular dystrophy type 2B (LGMD2B) and with Miyoshi myopathy (MM). This is of …

Dysferlin has recently been identified as a novel gene involved in limb–girdle muscular
dystrophy type 2B (LGMD2B) and its allelic disease, Miyoshi myopathy. The predicted …

DYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb‐Girdle Muscular
Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies. Dysferlin …

Limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), a distal
muscular dystrophy, are both caused by mutations in the recently cloned gene dysferlin …

Dysferlin is the protein product of the DYSF gene mapped at 2p31, which mutations cause
limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. To date, nine …

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

The limb-girdle muscular dystrophies are a group of inherited neuromuscular disorders
which are clinically and genetically heterogeneous. We have been able to carry out a follow …

Reports of dysferlinopathy have suggested a clinically heterogeneous group of patients. We
identified specific novel molecular and phenotypic features that help distinguish …

Article abstract Recently we reported that mutations in a muscle protein “dysferlin” are
present in limb girdle muscular dystrophy–2B and a related, adult-onset, distal dystrophy …

Mutations in the dysferlin gene cause muscular dystrophies called dysferlinopathy, which
include limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). To …