Jaiswal, J. and Marlow, G. and Summerill, G. and Mahjneh, I. and Mueller, S. and Hill, M. and Miyake, K and Haase, H. and Anderson, L. V. B. and Richard, I. and Kiuru-Enari, S. and McNeil, P. L. and Simon, S. S. and Bashir, R. (2007) 'Patients with a non-dysferlin miyoshi myopathy have a novel membrane repair defect.', Traffic., 8 (1). pp. 77-88.
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 suggested to be the cause for this disease. However, many patients who share clinical features with MM-type muscular dystrophy do not carry mutations in dysferlin gene. To understand the basis of MM that is not due to mutations in dysferlin gene, we analyzed cells from patients in one such family. In these patients, we found no defects in several potential candidates – annexin A2, caveolin-3, myoferlin and the MMD2 locus on chromosome 10p. Similar to dysferlinopathy, these cells also exhibit membrane repair defects and the severity of the defect correlated with severity of their disease. However, unlike dysferlinopathy, none of the conventional membrane repair pathways are defective in these patient cells. These results add to the existing evidence that cell membrane repair defect may be responsible for MM-type muscular dystrophy and indicate that a previously unsuspected genetic lesion that affects cell membrane repair pathway is responsible for the disease in the non-dysferlin MM patients.
|Keywords:||Non-dysferlin Miyoshi myopathy, Defective membrane repair.|
|Full text:||Full text not available from this repository.|
|Publisher Web site:||http://dx.doi.org/10.1111/j.1600-0854.2006.00505.x|
|Record Created:||18 May 2007|
|Last Modified:||08 Apr 2009 16:32|
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