Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
Venance
S L
SL
London Health Sciences Center, University of Western Ontario, London, ON, Canada.
Koopman
W J
WJ
Miskie
B A
BA
Hegele
R A
RA
Hahn
A F
AF
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
D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins