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Article

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

Journal of human genetics - 1 Jan 2002

Sakamoto Osamu, Kitoh Toshiyuki, Ohura Toshihiro, Ohya Noriaki, Iinuma Kazuie

Abstract excerpt

Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, short stature, neutropenia, and 3-methylglutaconic aciduria. Mutations have been identified in the TAZ ( G4.5) gene in patients with BTHS. This article presents a mutation analysis of this gene in a Japanese boy with cardiomyopathy with abnormal mitochondria, cyclic neutropenia, and 3-methylglutaconic aciduria (type 2). The...

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Identifiers

PMID: 12032589
DOI: 10.1007/s100380200030

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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