Novel compound mutations in the mitochondrial translation elongation factor (tsfm) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

HIGHLIGHTS

  • who: Elena Perli from the Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Policlinico have published the research: Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement, in the Journal: Scientific Reports Scientific Reports
  • what: The authors report an unusual presentation of mitochondrial cardiomyopathy with dilated phenotype and pathologic evidence of biventricular fibro-adipose replacement in a 33-year old woman who underwent cardiac transplant. The work described has been carried out in accordance with
  • how: By using shifted primer . . .

     

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