Ontology highlight
ABSTRACT:
SUBMITTER: Orstavik KH
PROVIDER: S-EPMC1377557 | biostudies-other | 1998 Nov
REPOSITORIES: biostudies-other
Orstavik K H KH Orstavik R E RE Naumova A K AK D'Adamo P P Gedeon A A Bolhuis P A PA Barth P G PG Toniolo D D
American journal of human genetics 19981101 5
Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found. No correlation between the location or type of mutation and the phenotype of BTHS has been found. Female carriers of BTHS seem to be healthy. This could be due to a selection against cells that have the mutant allele on the acti ...[more]