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TAZ

MIM.300394 Xq28

Etiology

- germline mutation of the tafazzin (TAZ) gene at chromosomal locus Xq28 in

  • Barth syndrome (BTHS) (MIM.302060)
  • X-linked endocardial fibroelastosis (EFE) (MIM.300183)
  • X-linked fatal infantile dilated cardiomyopathy (CMD3A) (MIM.300069)
  • familial isolated noncompaction of left ventricular myocardium (INVM) (MIM.300183)