Abstract
A 49-year-old man had an 8-year history of persistent, isolated elevation of serum creatine kinase (hyper-CK-emia) without muscle symptoms, and no electromyographic evidence of myotonia; his muscle biopsy showed features reminiscent of myotonic dystrophy (DM), with morphometric findings consistent with those described in DM type 2 (DM2). Genetic studies excluded mutations in the DM type 1 (DM1) gene, but revealed a CCTG repeat expansion in the ZNF9 gene, which is associated with DM2. Our data suggest that in asymptomatic patients with persistent hyper-CK-emia, DM2 should be considered in the differential diagnosis.
Original language | English |
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Pages (from-to) | 764-767 |
Number of pages | 4 |
Journal | Muscle and Nerve |
Volume | 31 |
Issue number | 6 |
DOIs | |
Publication status | Published - Jun 2005 |
Keywords
- Hyper-CK-emia
- Myofiber hypertrophy
- Myotonic dystrophy type 2
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)