Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies
نویسندگان
چکیده
منابع مشابه
Epilepsy in Duchenne and Becker muscular dystrophies.
Duchenne and Becker muscular dystrophies are X-linked allelic disorders in which the association of central nervous system dysfunction, typically in the form of mental retardation, is a well recognized feature. They are both due to mutations in the dystrophin gene, whose corresponding protein products are expressed both in the muscle and central nervous system. We have observed an increased fre...
متن کاملDystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies.
The aim of our study was to determine the role of dystrophin hydrophobic regions in the pathogenesis of Duchenne (DMD) and Becker (BMD) muscular dystrophies, by the Kyte-Doolittle scale mean hydrophobicity profile and 3D molecular models. A total of 1038 cases diagnosed with DMD or BMD with the in-frame mutation were collected in our hospital and the Leiden DMD information database in the perio...
متن کاملLinkage studies in Duchenne and Becker muscular dystrophies.
We have studied the inheritance of four cloned DNA sequences which recognise restriction fragment length polymorphisms on the short arm of the X chromosome in families with Becker and Duchenne muscular dystrophy. We have confirmed linkage of two probe loci to the disease loci and have combined our results with those previously published to give a maximum lod score of 11.642 at a recombination f...
متن کاملMolecular, cellular, and pharmacological therapies for Duchenne/Becker muscular dystrophies.
Although the molecular defect causing Duchenne/Becker muscular dystrophy (DMD/BMD) was identified nearly 20 years ago, the development of effective therapeutic strategies has nonetheless remained a daunting challenge. Over the years, a variety of different approaches have been explored in an effort to compensate for the lack of the DMD gene product called dystrophin. This review not only presen...
متن کاملDeletion patterns of Duchenne and Becker muscular dystrophies in Greece.
We present molecular data from 90 Greek boys with Duchenne or Becker muscular dystrophy using cDNA analysis or multiplex PCR or both. Deletions were detected in 63.3% of patients and were mainly clustered in two areas of the gene, one in the 3' and one in the 5' end of the gene (exons 3-19 and 44-53). Almost 17% of deletion breakpoints lay in intron 44 while 29% of deletions have a breakpoint i...
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ژورنال
عنوان ژورنال: Bosnian Journal of Basic Medical Sciences
سال: 2015
ISSN: 1840-4812,1512-8601
DOI: 10.17305/bjbms.2015.636