Ontology highlight
ABSTRACT:
SUBMITTER: Ferri L
PROVIDER: S-EPMC4795190 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Ferri Lorenzo L Donati Maria A MA Funghini Silvia S Cavicchi Catia C Pensato Viviana V Gellera Cinzia C Natacci Federica F Spaccini Luigina L Gasperini Serena S Vaz Frédéric M FM Cooper David N DN Guerrini Renzo R Morrone Amelia A
European journal of human genetics : EJHG 20150318 12
Infantile-onset skeletal myopathy Barth syndrome (OMIM #302060) is caused by mutations in the X-linked TAZ gene and hence usually manifests itself only in hemizygous males. Confirmatory testing is provided by mutational analysis of the TAZ gene and/or by biochemical dosage of the monolysocardiolipin/tetralinoleoyl cardiolipin ratio. Heterozygous females do not usually display a clinical phenotype but may undergo molecular genetic prenatal diagnosis during pregnancy. We characterized two novel an ...[more]