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Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy.

Abstract:

X-linked dilated cardiomyopathy (XLDC) is a dystrophinopathy characterized by severe cardiomyopathy with no skeletal muscle involvement. Several XLDC patients have been described with mutations that abolish dystrophin muscle (M) isoform expression. The absence of skeletal muscle degeneration normally associated with loss of dystrophin function was shown to be due to increased expression of brain (B) and cerebellar Purkinje (CP) isoforms of the gene exclusively in the skeletal muscle of these ...

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Publisher copy:
10.1093/hmg/10.23.2627

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Journal:
Human molecular genetics
Volume:
10
Issue:
23
Pages:
2627-2635
Publication date:
2001-11-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:f52a68c0-f69e-49a1-8594-3099c3f7a217
Source identifiers:
237318
Local pid:
pubs:237318

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