title: [Selenoprotein-related muscular dystrophy].
abstract: A nine year-old girl with selenoprotein-related muscular dystrophy was diagnosed. The primary symptom was weak neck muscles. During childhood she developed a rigid spine and over a period of a few years a severe scoliosis. She was compound heterozygote for a mutation in the SEPN1 gene. Experimental treatment with N-acetylcystein for a period of two years was initiated.
authors: H.C. Andersens Børnehospital, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C, Denmark. lars.kjaersgaard@dadlnet.dk
authors: Lars Kjærsgaard
authors: LK
authors: Hansen
authors: Henrik
authors: H
authors: Schrøder
authors: Lilian
authors: L
authors: Ousager
mesh_terms: D000111:Acetylcysteine / Q000627:therapeutic use; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D012600:Scoliosis / Q000175:diagnosis; D051140:Selenoproteins / Q000235:genetics*
chemical_list: D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins; D000111:Acetylcysteine