A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.

We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness. Dystrophin expression was present in the muscle of affected males and t...

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Manylion Llyfryddiaeth

Cyhoeddwyd yn:	J Clin Invest
Prif Awduron:	Muntoni, F, Wilson, L, Marrosu, G, Marrosu, M G, Cianchetti, C, Mestroni, L, Ganau, A, Dubowitz, V, Sewry, C
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	American Society for Clinical Investigation 1995
Pynciau:	Research Article
Mynediad Ar-lein:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC185251/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7635962/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118112
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