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Myotonic dystrophy type 2
rareMyotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.
- Identifiers
- MONDO:0011266 OMIM:602668Orphanet:606
- Causal genes
- CNBP
- Part of
- Myotonic dystrophy
- Also known as
- CNBP myotonic dystrophy · DM2 · dystrophia myotonica type 2 · myotonic dystrophy 2 · myotonic dystrophy caused by mutation in CNBP
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