Article
Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.
Muscle & nerve - 1 Jun 2005
Merlini Luciano, Sabatelli Patrizia, Columbaro Marta, Bonifazi Emanuela, Pisani Valerio, Massa Roberto, Novelli Giuseppe
Abstract excerpt
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...
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