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Clinical:Limb Girdle Muscular Dystrophy
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Important Resources for Limb Girdle Muscular Dystrophy:
Limb Girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders unified by the presence of limb girdle weakness and the sparing of facial muscles.
Alpha-dystroglycan helps to anchor the extracellular matrix to the intracellular actin filaments in muscle fibers. Hypoglycosylated alpha-dystroglycan is unable to properly bind to the extracellular matrix. Fukutin-Related Protein (FKRP) is the gene most frequently mutated in non-congenital dystroglycanopathy; and the disease associated with this mutation is known as Limb Girdle Muscular Dystrophy 2I (LGMD2I). (Fukutin, which has sequence homology to FKRP, is named for its association with the eponymic Fukuyama Congenital Muscular Dystrophy).
LGMD2I, one of the more common forms of limb-girdle muscular dystrophy among people of Northern European descent, has a wide clinical spectrum. Patients can present in childhood, adolescence, or adulthood. Some patients lose ambulation in their teens, while others remain ambulant well into adulthood. Dilated cardiomyopathy is common, and respiratory failure is a complication that also can be seen in this disease.
Two commercial monoclonal antibodies to alpha-dystroglycan are available (Millipore's IIH6 and VIA4-1), each of which recognize glycosylated epitopes. There appears to be a correlation between degree of hypoglycosylation and clinical severity.[1]
References
- ↑ Dubowitz V and Sewry CA. Muscle Biopsy: A Practical Approach (3rd Edition). Saunders Elsevier (2007) p 341-347.
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