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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Biopsy
-
Creatine Kinase / blood*
-
DNA Mutational Analysis
-
Diagnosis, Differential
-
Genetic Testing
-
Humans
-
Male
-
Middle Aged
-
Muscle Fibers, Skeletal / enzymology*
-
Muscle Fibers, Skeletal / pathology
-
Muscle, Skeletal / enzymology*
-
Muscle, Skeletal / pathology
-
Muscle, Skeletal / physiopathology
-
Mutation / genetics
-
Myotonic Dystrophy / enzymology*
-
Myotonic Dystrophy / genetics*
-
Myotonic Dystrophy / pathology
-
RNA-Binding Proteins / genetics
-
Trinucleotide Repeats / genetics
-
Up-Regulation / genetics
Substances
-
CNBP protein, human
-
RNA-Binding Proteins
-
Creatine Kinase