A novel insert mutation in gamma-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy.
Lin
S
S
Ramelli
G P
GP
Moser
H
H
Gallati
S
S
Burgunder
J-M
JM
D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D004251:DNA Transposable Elements / Q000235:genetics*; D016189:Dystrophin / Q000378:metabolism; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D049031:Sarcoglycans
D003598:Cytoskeletal Proteins; D004251:DNA Transposable Elements; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans