title: Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2.
abstract: Myotonic dystrophy type 2 (DM2) is a multisystem degenerative disorder with distinctive clinical and electrophysiological features. Recently, genetic confirmation has become available with the identification of the molecular defect, an expansion of a CCTG repeat located in intron 1 of the zinc finger protein 9 (ZNF9) gene. We present two first-degree relatives with an athletic clinical phenotype, pathological evidence of subsarcolemmal vacuolation, and molecular genetic confirmation of DM2. When found in the proper clinical context, athleticism and pathological subsarcolemmal vacuoles should not dissuade the clinician from the possible diagnosis of DM2.
authors.affiliation: Department of Clinical Neurosciences, University of Calgary, , Calgary, Alberta T2N 4N1, Canada. corytoth@shaw.ca
authors.forename: Cory
authors.initials: C
authors.lastname: Toth
authors.forename: Chris
authors.initials: C
authors.lastname: Dunham
authors.forename: Oksana
authors.initials: O
authors.lastname: Suchowersky
authors.forename: Jillian
authors.initials: J
authors.lastname: Parboosingh
authors.forename: Keith
authors.initials: K
authors.lastname: Brownell
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D042622:DNA Repeat Expansion / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D016601:RNA-Binding Proteins / Q000235:genetics*; D012508:Sarcolemma / Q000473:pathology
chemical_list: C433227:CNBP protein, human; D016601:RNA-Binding Proteins