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Duchenne muscular dystrophy

Duchenne muscular dystrophy

a specific form of muscular dystrophy that is inherited as a sex-linked recessive trait and thus confined to young males and to females with turners syndrome. One third of all cases are estimated to be new mutational events.

See: dystrophin.

It is characterised by degeneration and necrosis of skeletal muscle fibres, that are replaced by fat and fibrous tissue.

symptoms include muscle weakness and in some forms, the appearance of muscle enlargement (pseudo-hypertrophy). Advanced cases can include weakness of the respiratory muscles (compromising breathing) and cardiomyopathy.

Inheritance: sex-linked recessive.

Incidence: 1 in 4000 male births.


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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, ...

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by jonmoulton
Thu Jan 10, 2013 3:59 pm
 
Forum: Molecular Biology
Topic: Muscular dystrophy inheritance question
Replies: 7
Views: 1076

Novel compounds for treating Duchenne muscular dystrophy

... S. Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents. The Application of Clinical ...

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by jonmoulton
Thu Mar 10, 2011 6:11 pm
 
Forum: Genetics
Topic: Novel compounds for treating Duchenne muscular dystrophy
Replies: 0
Views: 778

Review: Exon Skipping as a Therapeutic Approach to Duchenne

... of Exon Skipping as a Therapeutic Approach to Duchenne Muscular Dystrophy A nice new review of Morpholinos (PMO) and 2'-O-Me phosphorothioate ...

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by jonmoulton
Thu Oct 28, 2010 9:36 pm
 
Forum: Genetics
Topic: Review: Exon Skipping as a Therapeutic Approach to Duchenne
Replies: 1
Views: 4284

Morpholinos and cell-penetrating peptides: paper

... Therapeutic Promise and Challenge for Duchenne Muscular Dystrophy. Biochim Biophys Acta. 2010 Feb 16. [Epub ahead of print] ...

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by jonmoulton
Fri Feb 26, 2010 4:21 pm
 
Forum: Molecular Biology
Topic: Morpholinos and cell-penetrating peptides: paper
Replies: 0
Views: 466

How often do mutations occur?

... allele in the form of another X-chromosome. Duchenne muscular dystrophy is one such example, causing severe muscular loss that ...

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by biohazard
Mon Oct 12, 2009 6:27 am
 
Forum: Genetics
Topic: How often do mutations occur?
Replies: 16
Views: 12214
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