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 …

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 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 …

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

The limb-girdle muscular dystrophies are a highly heterogeneous group of muscle disorders
with many different genetic causes now known. Amongst the causes of LGMD, the dysferlin …

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

Mutations in the dysferlin gene cause limb‐girdle muscular dystrophy type 2B, Miyoshi
myopathy, and distal anterior compartment myopathy. Dysferlin mainly localizes to the …

Mutations in the dysferlin gene underlie two phenotypically distinct muscular dystrophies:
Miyoshi myopathy and limb-girdle muscular dystrophy 2B. Dysferlin was proposed to have a …

Limb girdle muscular dystrophy (LGMD) type 2B and distal Miyoshi myopathy (MM) are
caused by mutations in a recently discovered mammalian gene coding for a skeletal muscle …

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