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Dystrophia myotonica 2

Known as: Proximal Myotonic Myopathy, Ricker Syndrome, Dystrophia Myotonica 2s 
A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal… 
National Institutes of Health

Related topics

Related topics

13 relations
Autosomal dominant inheritanceCNBP geneCNBP wt AlleleConnective and Soft Tissue

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Determinants of testosterone levels in human male obesity
Testosterone (T) levels are decreased in obese men, but the underlying causes are incompletely understood. Our objective was to… 
2011
2011
Selective inhibition of MBNL1–CCUG interaction by small molecules toward potential therapeutic agents for myotonic dystrophy type 2 (DM2)†
Myotonic dystrophy type 2 (DM2) is an incurable neuromuscular disease caused by expanded CCUG repeats that may exhibit toxicity… 
2008
2008
A simple clinical score for type 2 diabetes mellitus screening in the Canary Islands.
Highly Cited
2007
Highly Cited
2007
A GC-based metabonomics investigation of type 2 diabetes by organic acids metabolic profile.
2004
2004
A Long PCR-Based Molecular Protocol for Detecting Normal and Expanded ZNF9 Alleles in Myotonic Dystrophy Type 2
Myotonic dystrophy type 2 (DM2) lacks the expansion on chromosome 19q13 present in DM1 and is characterized by a mutation on 3q21… 
Review
2002
Review
2002
Myotonic dystrophy type 2
Myotonic dystrophy type 2 (DM2) is a clinically but not genetically heterogeneous, multisystem disorder, that is clinically… 
Review
2002
Review
2002
Role of islet amyloid in type 2 diabetes mellitus: consequence or cause?
Review
1999
Review
1999
The Myotonic Dystrophies
DMPK 
1998
1998
Cardiac involvement in proximal myotonic myopathy
Proximal myotonic myopathy (PROMM) is a recently described autosomal dominantly inherited disorder resulting in proximal muscle… 
Highly Cited
1985
Highly Cited
1985
Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes.
A deletion of the long arm of chromosome 15 (usually involving bands 15q11-q12) has been seen in approximately 50% of Prader… 
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