Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2.
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.
Toth
Cory
C
Department of Clinical Neurosciences, University of Calgary, , Calgary, Alberta T2N 4N1, Canada. corytoth@shaw.ca
Dunham
Chris
C
Suchowersky
Oksana
O
Parboosingh
Jillian
J
Brownell
Keith
K
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
C433227:CNBP protein, human; D016601:RNA-Binding Proteins