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Muscular dystrophy

muscular dystrophy

A group of diseases characterised by progressive degeneration and/or loss of muscle fibres without nervous system involvement. All or nearly all of them have a hereditary origin but details of the type of genetic defect and of the prognosis for the disease vary from type to type. Duchenne muscular dystrophy (pseudohypertrophic muscular dystrophy) is the most common form. It is due to a sex-linked recessive allele and this is expressed as an absence of the protein dystrophin, the disease in boys shows extensive but insufficient muscle fibre reformation from satellite cells.


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Molecular medicine: antisense

... to advocate for a new medicine. Here are a few articles on Duchenne muscular dystrophy and eteplirsen, a Morpholino antisense drug currently in clinical trials. http://www.huffingtonpost.com/tracy-seckler/eteplirsen-duchenne_b_4904850.html ...

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by jonmoulton
Thu Mar 06, 2014 4:19 pm
 
Forum: Molecular Biology
Topic: Molecular medicine: antisense
Replies: 0
Views: 680

Genetic testing: reliability, accuracy, experience?

... diseases are very straightforward, though. For example, the Duchenne muscular dystrophy requires just a single mutation in one of the alleles of a gene for dystrophin in ...

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by biohazard
Mon Apr 15, 2013 8:55 am
 
Forum: Genetics
Topic: Genetic testing: reliability, accuracy, experience?
Replies: 3
Views: 4108

Re: Muscular dystrophy inheritance question

Right - this is autosomal, therefore it is not Duchenne muscular dystrophy (DMD) and is not a mutation of the dystrophin gene. Thanks, I had missed that. The upper ...

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by jonmoulton
Thu Jan 10, 2013 3:59 pm
 
Forum: Molecular Biology
Topic: Muscular dystrophy inheritance question
Replies: 7
Views: 5689

Re: Muscular dystrophy inheritance question

... and is therefore unaffected as it is recessive. I am not sure if muscular dystrophy actually shows this type of inheritance or if my lecturer made that up, but based ...

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by firefly
Wed Jan 09, 2013 9:16 pm
 
Forum: Molecular Biology
Topic: Muscular dystrophy inheritance question
Replies: 7
Views: 5689

Re: Muscular dystrophy inheritance question

The lower sequence shows one trace for the male but for the female there are two traces at one nucleotide position (labelled N). That looks like the allelic difference; since the female has two copies of the dystrophin gene that differ slightly, this can give rise to the two traces in the sequence (...

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by jonmoulton
Wed Jan 09, 2013 5:06 pm
 
Forum: Molecular Biology
Topic: Muscular dystrophy inheritance question
Replies: 7
Views: 5689
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