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.
Merlini, L., Sabatelli, P., Columbaro, M., Bonifazi, E., Pisani, V., Massa, R., et al. (2005). Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. MUSCLE & NERVE, 31(6), 764-767 [10.1002/mus.20289].
Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2
MASSA, ROBERTO;NOVELLI, GIUSEPPE
2005-01-01
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.| File | Dimensione | Formato | |
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