P-12 Becker patients with isolated deletion of exon 48 in dystrophin gene present with a mild phenotype and seem to escape cardiomyopathy

Benzer Materyaller

• A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene
  Yazar:: Zimowski, Janusz G., ve diğerleri
  Baskı/Yayın Bilgisi: (2017)
• Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype
  Yazar:: Witting, Nanna, ve diğerleri
  Baskı/Yayın Bilgisi: (2011)
• A Msel polymorphism in exon 48 of the dystrophin gene
  Yazar:: Yau, S.C., ve diğerleri
  Baskı/Yayın Bilgisi: (1991)
• On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
  Yazar:: TAGLIA, ANTONELLA, ve diğerleri
  Baskı/Yayın Bilgisi: (2012)
• Early Progressive Dilated Cardiomyopathy in a Family with Becker Muscular Dystrophy Related to a Novel Frameshift Mutation in the Dystrophin Gene Exon 27
  Yazar:: Tsuda, Takeshi, ve diğerleri
  Baskı/Yayın Bilgisi: (2014)