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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Detalles Bibliográficos
Autores principales: Komaki, Ryouhei, Hashimoto, Yasumasa, Mori-Yoshimura, Madoka, Oya, Yasushi, Takizawa, Hotake, Minami, Narihiro, Nishino, Ichizo, Aoki, Yoshitsugu, Takahashi, Yuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7449875/
https://www.ncbi.nlm.nih.gov/pubmed/32504006
http://dx.doi.org/10.1038/s10038-020-0788-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7449875/
https://www.ncbi.nlm.nih.gov/pubmed/32504006
http://dx.doi.org/10.1038/s10038-020-0788-9

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