MYOTONIC DYSTROPHY 1

Known as: DM, Dystrophia Myotonica 1, STEINERT DISEASE 
A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart… (More)
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Antisense oligonucleotides (ASOs) hold promise for gene-specific knockdown in diseases that involve RNA or protein gain-of… (More)
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Highly Cited
2010
Highly Cited
2010
The common form of myotonic dystrophy (DM1) is associated with the expression of expanded CTG DNA repeats as RNA (CUGexp RNA). To… (More)
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Highly Cited
2009
Highly Cited
2009
Myotonic dystrophy type 1 (DM1) is caused by toxicity of an expanded, noncoding (CUG)n tract in DM protein kinase (DMPK… (More)
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Highly Cited
2007
Highly Cited
2007
The genetic basis of myotonic dystrophy type 1 (DM1) is a CTG expansion in the 3' untranslated region (UTR) of DMPK. The… (More)
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Highly Cited
2005
Highly Cited
2005
Myotonic dystrophy type 1 (DM1) is a debilitating multisystemic disorder caused by a CTG repeat expansion in the DMPK gene… (More)
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Highly Cited
2004
Highly Cited
2004
Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the DMPK gene. In skeletal muscles, DM1 may involve a… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with… (More)
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Highly Cited
2001
Highly Cited
2001
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome… (More)
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Highly Cited
2001
Highly Cited
2001
Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide expansion in the 3′ untranslated region of the DM protein kinase… (More)
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Highly Cited
2001
Highly Cited
2001
The phenotypes in myotonic dystrophy types 1 and 2 (DM1 and DM2) are similar, suggesting a shared pathophysiologic mechanism. DM1… (More)
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