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.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Mongini T,Palmucci L,Doriguzzi C,Chiadoò-Piat L,Restagno Gdoi
10.1016/0304-3940(92)90769-4keywords:
subject
Has Abstractpub_date
1992-11-23 00:00:00pages
37-40issue
1eissn
0304-3940issn
1872-7972pii
0304-3940(92)90769-4journal_volume
147pub_type
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