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.
authors.affiliation: Neuromuscular Unit, Istituti Ortopedici Rizzoli, Bologna, Italy.
authors.forename: Luciano
authors.initials: L
authors.lastname: Merlini
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sabatelli
authors.forename: Marta
authors.initials: M
authors.lastname: Columbaro
authors.forename: Emanuela
authors.initials: E
authors.lastname: Bonifazi
authors.forename: Valerio
authors.initials: V
authors.lastname: Pisani
authors.forename: Roberto
authors.initials: R
authors.lastname: Massa
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
mesh_terms: D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000201:enzymology* / Q000473:pathology; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009223:Myotonic Dystrophy / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D016601:RNA-Binding Proteins / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics; D015854:Up-Regulation / Q000235:genetics
chemical_list: C433227:CNBP protein, human; D016601:RNA-Binding Proteins; D003402:Creatine Kinase