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Hyper‐CK‐emia as the sole manifestation of myotonic dystrophy type 2
Author(s) -
Merlini Luciano,
Sabatelli Patrizia,
Columbaro Marta,
Bonifazi Emanuela,
Pisani Valerio,
Massa Roberto,
Novelli Giuseppe
Publication year - 2005
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20289
Subject(s) - myotonic dystrophy , muscle biopsy , asymptomatic , myotonia , creatine kinase , medicine , endocrinology , muscular dystrophy , biopsy , pathology
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. Muscle Nerve, 2005