myotonic dystrophy 2 (proximal myotonic myopathy)
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Epidemiology
- less common than myotonic dystrophy 1
Pathology
Genetics
- autosomal dominant
- associated with defects in CNBP*
- CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene
* see Laboratory (contrast ref[3] with ref[1]
Clinical manifestations
- milder than myotonic dystrophy 1[3]
- proximal myotonia
- proximal muscle weakness
- myalgias
- cardiac arrhythmias[3]
Laboratory
- genetic testing not available[3]
- presumably CNBP gene mutation
More general terms
References
- ↑ 1.0 1.1 UniProt http://www.uniprot.org/uniprot/P62633.html
- ↑ OMIM https://mirror.omim.org/entry/602668
- ↑ 3.0 3.1 3.2 3.3 3.4 Medical Knowledge Self Assessment Program (MKSAP) 15, 17, American College of Physicians, Philadelphia 2009, 2015