Immunocytochemical analysis of human muscular dystrophy.
Immunocytochemistry is an essential tool for the assessment of muscle biopsies from patients with muscular dystrophy, especially the recessive forms. Antibodies can detect primary defects when there is an alteration in expression, in particular in Xp21 muscular dystrophies, Emery-Dreifuss muscular dystrophy, the limb-girdle dystrophies caused by abnormal expression of the sarcoglycans, and in the form of congenital muscular dystrophy linked to the gene for laminin alpha2. Absence of a protein is easily observed and reduction in expression can be assessed provided adequate controls and baselines are established. Assessment of secondary defects can also be of diagnostic value; they widen the understanding of pathology changes, and are helping in the development of therapeutic strategies.
Sewry
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CA
Dubowitz Neuromuscular Centre, Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom W12 ONN. c.sewry@ic.ac.uk
D002824:Chorionic Villi / Q000378:metabolism; D003598:Cytoskeletal Proteins / Q000378:metabolism*; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism; D016326:Extracellular Matrix Proteins / Q000378:metabolism; D015395:Histocompatibility Antigens Class I / Q000378:metabolism; D000949:Histocompatibility Antigens Class II / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D008565:Membrane Proteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics / Q000378:metabolism*; D009218:Myosins / Q000378:metabolism; D009687:Nuclear Proteins; D012867:Skin / Q000378:metabolism; D013049:Spectrin / Q000378:metabolism; D013946:Thymopoietins / Q000378:metabolism; D049411:Utrophin
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D016326:Extracellular Matrix Proteins; D015395:Histocompatibility Antigens Class I; D000949:Histocompatibility Antigens Class II; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; D049411:Utrophin; C092710:emerin; D013049:Spectrin; D009218:Myosins