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 electr omyographic evidence of myotonia; his muscle biopsy showed feat...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 electr omyographic evidence of myotonia; his muscle biopsy showed features reminiscent of myotonic dystrophy (DM), with morphometric findings consistent with those des cribed 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 assoc iated with DM2. Our data suggest that in asymptomatic patients with persistent h yper-CK-emia, DM2 should be considered in the differential diagnosis.展开更多
文摘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 electr omyographic evidence of myotonia; his muscle biopsy showed features reminiscent of myotonic dystrophy (DM), with morphometric findings consistent with those des cribed 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 assoc iated with DM2. Our data suggest that in asymptomatic patients with persistent h yper-CK-emia, DM2 should be considered in the differential diagnosis.
