Dysferlinopathy
National Institutes of Health
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Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in…
Introduction: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated…
Introduction: Dysferlin deficiency causes dysferlinopathies. Among peripheral blood mononuclear cells (PBMCs), the dysferlin…
We investigated the clinical and molecular pattern of two young men affected by dysferlinopathy, that was first diagnosed as…
Mutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous…
Dysferlinopathy and rigid spine syndrome occurring in a 50‐year‐old man is reported. The patient noticed stiffness of knee and…
A 57-year-old woman first noticed difficulty in walking at the age of 34 years, and since then muscle wasting and weakness in the…