Conclusions The Dysferlin Conference has continued to grow rapidly, in both number of
participants and breadth of research presented, since the first conference in 2007. It is …

The fifth Annual Dysferlin Conference, sponsored and organized by the Jain Foundation,
was held from July 11 to 14, 2011 in Chicago, Illinois. Participants included 34 speakers, 31 …

Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the
mutational spectrum of dysferlinopathies, to further study one case with diagnostic …

Conclusions The unique lab meeting format of the 4th Annual Dysferlin Conference received
extremely positive feedback from participants, who felt that it created a more collegial and …

Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as
dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in …

Background: In some cases, a definitive confirmation of dysferlinopathy cannot be achieved
by DNA test, because the mutation is detected in one allele only. Patients and methods …

Methods We evaluated clinical parameters of 74 dysferlinopathy patients with known
dysferlin gene mutations who were previously reported in the literature. Results The age at …

Introduction: Dysferlin deficiency causes dysferlinopathies. Among peripheral blood
mononuclear cells (PBMCs), the dysferlin protein is expressed specifically in CD14+ …

Objective The dose–response effects of dysferlin transgenesis were analyzed to determine if
the dysferlin‐deficient myopathies are good candidates for gene replacement therapy …

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 …