Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2

Luciano Merlini, Patrizia Sabatelli, Marta Columbaro, Emanuela Bonifazi, Valerio Pisani, Roberto Massa, Giuseppe Novelli

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
Pages (from-to)764-767
Number of pages4
JournalMuscle and Nerve
Issue number6
Publication statusPublished - Jun 2005


  • Hyper-CK-emia
  • Myofiber hypertrophy
  • Myotonic dystrophy type 2

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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