Canadian Association of Neuropathologists

2010 Canadian Journal of Neurological Sciences  
Dysferlin is a sarcolemmal protein involved in the repair of skeletal muscle membranes. Mutations in the dysferlin gene result in dysferlin deficiency and cause limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and other myopathies. While histologic features are shared with other limb girdle muscular dystrophies, subtle ultrastructural features that may be specific to dysferlin-deficient myopathies have been described. A cluster of dysferlin mutations has been identified in a Metis
more » ... nity of Manitoba and includes a case with striking sarcolemmal changes. The aim of this review of Manitoban cases is twofold, to show a gradation of pathologic changes and to identify possibly distinctive ultrastructural changes of dysferlinopathy.
doi:10.1017/s0317167100009847 fatcat:uxar3ekcofh2hfvkjuliwqvbry