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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Hum Genet
Egile Nagusiak: Komaki, Ryouhei, Hashimoto, Yasumasa, Mori-Yoshimura, Madoka, Oya, Yasushi, Takizawa, Hotake, Minami, Narihiro, Nishino, Ichizo, Aoki, Yoshitsugu, Takahashi, Yuji
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Singapore 2020
Gaiak:
Article
Sarrera elektronikoa: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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