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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Bibliografiska uppgifter
Huvudupphovsmän: Muntoni, F, Wilson, L, Marrosu, G, Marrosu, M G, Cianchetti, C, Mestroni, L, Ganau, A, Dubowitz, V, Sewry, C
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1995
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC185251/
https://ncbi.nlm.nih.gov/pubmed/7635962
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