Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect
(2007)
Journal Article
Jaiswal, J., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., …Bashir, R. (2007). Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect. Traffic, 8(1), 77-88. https://doi.org/10.1111/j.1600-0854.2006.00505.x
Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene. These mutations result in poor ability to repair cell membrane damage, which is suggest... Read More about Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect.