Genetics of Duchenne and Becker 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 کاملDuchenne and Becker muscular dystrophies: an Indian update on genetics and rehabilitation.
The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families with Duchenne and Becker muscular dystrophy (D/BMD) in India. The prediction of Duchenne muscular dystrophy (DMD) patients to have out-framed deletions and Becker's muscular dystrophy (BMD) patients to have in-frame deletions of dystrophi...
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...
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 کاملPartial gene duplication in Duchenne and Becker muscular dystrophies.
Duchenne and Becker muscular dystrophies (DMD and BMD) are progressive muscle wasting disorders with an X linked recessive mode of inheritance. We have surveyed 120 unrelated patients with DMD or BMD for gene duplications using a series of genomic probes from within the DMD/BMD gene locus. In three patients, two with DMD and one with BMD, a duplicated region within the DMD/BMD locus has been sh...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1990
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-4-7-8