title: Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy.
abstract: Two patients with Xp21 muscular dystrophy Becker type showed absence of dystrophin in muscle biopsy tested with 4 antibodies (polyclonal anti-60 kDa, monoclonal against the rod domain, the C-terminus and the N-terminus). DNA analysis did not detect any deletion in one patient and demonstrated deletion of exons 3-7 in the other. The cases represent an exception to the strict correlation between the dystrophin pattern in muscle biopsy and the clinical course of the disease: in fact both the patients are still walking at 14 and 15 years respectively. The possibility of similar cases must be considered not only in the prognosis of Xp21 muscular dystrophy but the more so in the evaluation of therapeutical trials.
authors: Paolo Peirolo Centre for Neuromuscular Diseases, University of Turin, Italy.
authors: T
authors: T
authors: Mongini
authors: L
authors: L
authors: Palmucci
authors: C
authors: C
authors: Doriguzzi
authors: L
authors: L
authors: Chiadoò-Piat
authors: G
authors: G
authors: Restagno
mesh_terms: D000293:Adolescent; D015139:Blotting, Southern; D004247:DNA / Q000378:metabolism; D016189:Dystrophin / Q000378:metabolism*; D005455:Fluorescent Antibody Technique; D005784:Gene Amplification; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009132:Muscles / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000378:metabolism*
chemical_list: D016189:Dystrophin; D004247:DNA