Very mild muscular dystrophy associated with the deletion of 46 percent of dystrophin
Article Abstract:
Two distinct types of muscular dystrophy, a genetic disease characterized by weakness and loss of muscle control, are caused by the mutations in the same X-linked gene. Duchenne muscular dystrophy (DMD), which begins in childhood, is progressive and usually results in death at an early age. Becker muscular dystrophy (BMD) is a milder form of the disease with a later age of onset, usually between 30 and 40 years. Both types of dystrophy are the result of a genetic mutation caused by a deletion. Dystrophin is known to be the corresponding (matching) protein involved in this process. Researchers have hypothesized that DMD patients undergo a disruption in the production of this protein, and BMD patients undergo deletions that lead to the production of an altered dystrophin molecule. Immunoblotting studies have supported this idea; DMD patients lack dystrophin or have low concentrations in their muscle cells, while BMD patients have more normal concentrations but have abnormal dystrophin. A deletion of the dystrophin gene in a family that exhibited mild BDM is described. Results of immunological tests indicated that affected individuals produced dystrophin that was located at the expected site of the muscle cell, but it was abnormal. Even patients with large deletions of the dystrophin gene had only mild forms of muscular dystrophy. This evidence supports investigators' hypothesis and has implications for possible methods of gene therapy for this disorder. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1990
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Primary structure of dystrophin-related protein
Article Abstract:
The entire cDNA of dystrophin-related protein (DRP) has been cloned and sequenced. The gene shows homology with dystrophin along its entire length, suggesting that DRP and dystrophin have evolved from the same ancestral gene. Comparison of the two sequences allows identification of functional regions, and reveals that the structure of dystrophin is more irregular than previously thought. Particular attention is paid to regions that may play a role in the localization of dystrophin and DRP in the muscle cell.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1992
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Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
Article Abstract:
The lack of the 50K dystrophin-linked glycoprotein in sarcolemma causes severe childhood autosomal recessive muscular dystrophy (SCARMD) as well as X-linked recessive Duchenne muscular dystrophy (DMD). Dystrophin is a membrane cytoskeletal protein that helps to produce a complex of sarcolemmal glycoproteins necessary for the normal development of muscles. The absence of dystrophin and thus also of the glycoproteins is a common feature of both DMD and SCARMD pathology.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1992
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