A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

1992 ◽  
Vol 2 (2) ◽  
pp. 117-120 ◽  
Author(s):  
Debora Rapaport ◽  
Maria Rita Passos-Bueno ◽  
Reinaldo Issao Takata ◽  
Simone Campiotto ◽  
Sabine Eggers ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Duchenne Muscular Dystrophy Gene ◽  
The Brain

scholarly journals A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution

1990 ◽  
Vol 272 (2) ◽  
pp. 557-560 ◽  
Author(s):  
S Bar ◽  
E Barnea ◽  
Z Levy ◽  
S Neuman ◽  
D Yaffe ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Untranslated Region ◽  
Actin Binding ◽  
Duchenne Muscular Dystrophy Gene ◽  
Novel Transcript ◽  
Muscle Tissues ◽  
Actin Binding Domain ◽  
The Brain ◽  
Lung And Kidney

A novel transcript of the Duchenne muscular dystrophy gene has been identified. This 6.5 kb mRNA contains sequences from the 3′ untranslated region of dystrophin mRNA and from the regions coding for the C-terminal and the cysteine-rich domains. However, probes for the regions encoding the spectrin-like repeats and the actin-binding domain, as well as probes for the first exons of the muscle- and brain-type dystrophin mRNA, did not hybridize with this new mRNA. Significant amounts of the 6.5 kb mRNA were found in a variety of non-muscle tissues, such as liver, testis, lung and kidney, but not in skeletal muscle. The abundance of this mRNA in the brain is at least as high as that of the previously described 14 kb brain-type dystrophin mRNA.

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Nature ◽  
1988 ◽  
Vol 333 (6172) ◽  
pp. 466-469 ◽  
Author(s):  
Elizabeth E. Zubrzycka-Gaarn ◽  
Dennis E. Bulman ◽  
George Karpati ◽  
Arthur H. M. Burghes ◽  
Bonnie Belfall ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Gene Product ◽  
Human Skeletal Muscle ◽  
Duchenne Muscular Dystrophy Gene

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

Genomics ◽  
1990 ◽  
Vol 7 (4) ◽  
pp. 602-606 ◽  
Author(s):  
Stephen Abbs ◽  
Roland G. Roberts ◽  
Christopher G. Mathew ◽  
David R. Bentley ◽  
Martin Bobrow
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Recombination Frequency ◽  
Intragenic Recombination ◽  
Accurate Assessment ◽  
Duchenne Muscular Dystrophy Gene
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