Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling

Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and severity of clinical manifestations are highly variable in BTHS, even among patients with identical gene mutations. Currently, less than 2...

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Detalles Bibliográficos
Autores principales: Raja, Vaishnavi, Reynolds, Christian A., Greenberg, Miriam L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482962/
https://www.ncbi.nlm.nih.gov/pubmed/31032491
http://dx.doi.org/10.29245/2572-9411/2017/2.1087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482962/
https://www.ncbi.nlm.nih.gov/pubmed/31032491
http://dx.doi.org/10.29245/2572-9411/2017/2.1087

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