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

doi:10.1002/mus.20289

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 journal › Article › peer-review

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
Pages (from-to)	764-767
Number of pages	4
Journal	Muscle and Nerve
Volume	31
Issue number	6
DOIs	https://doi.org/10.1002/mus.20289
Publication status	Published - Jun 2005

Keywords

Hyper-CK-emia
Myofiber hypertrophy
Myotonic dystrophy type 2

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

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title = "Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2",

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.",

keywords = "Hyper-CK-emia, Myofiber hypertrophy, Myotonic dystrophy type 2",

author = "Luciano Merlini and Patrizia Sabatelli and Marta Columbaro and Emanuela Bonifazi and Valerio Pisani and Roberto Massa and Giuseppe Novelli",

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AU - Merlini, Luciano

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AU - Columbaro, Marta

AU - Bonifazi, Emanuela

AU - Pisani, Valerio

AU - Massa, Roberto

AU - Novelli, Giuseppe

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