title: Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
authors.affiliation: London Health Sciences Center, University of Western Ontario, London, ON, Canada.
authors.forename: S L
authors.initials: SL
authors.lastname: Venance
authors.forename: W J
authors.initials: WJ
authors.lastname: Koopman
authors.forename: B A
authors.initials: BA
authors.lastname: Miskie
authors.forename: R A
authors.initials: RA
authors.lastname: Hegele
authors.forename: A F
authors.initials: AF
authors.lastname: Hahn
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D003964:Diaphragm / Q000503:physiopathology; D006970:Disorders of Excessive Somnolence / Q000209:etiology; D004576:Electromyography; D005260:Female; D006333:Heart Failure / Q000209:etiology; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D011660:Pulmonary Heart Disease / Q000209:etiology*; D012131:Respiratory Insufficiency / Q000209:etiology; D051140:Selenoproteins
chemical_list: D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins