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Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

Becker muscular dystrophy (BMD) is caused by specific mutations in the DMD gene that causes progressive muscle weakness and primarily affects skeletal and cardiac muscle. Although cardiac involvement is a significant cause of mortality in BMD, the genetic–phenotype correlation for skeletal and cardi...

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Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Komaki, Ryouhei, Hashimoto, Yasumasa, Mori-Yoshimura, Madoka, Oya, Yasushi, Takizawa, Hotake, Minami, Narihiro, Nishino, Ichizo, Aoki, Yoshitsugu, Takahashi, Yuji
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Singapore 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7449875/
https://ncbi.nlm.nih.gov/pubmed/32504006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0788-9
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