Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)

An Argentine male child died at 4.5 years of age of a lethal mitochondrial disease associated with a MELAS mutation and a Barth syndrome-like presentation. The child had severe failure to thrive from the early months and for approximately two years thereafter. In addition, the patient had severely d...

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Detalles Bibliográficos
Autores principales: Dodelson De Kremer, Raquel, Paschini Capra, Ana, Bacman, Sandra, Argaraña, Carlos, Civallero, Gabriel, Kelley, Richard I., Guelbert, Norberto, Latini, Alexandra, Noher de Halac, Inés, Giner Ayala, Alicia, Johnston, Jennifer, Proujansky, Roy
Formato: Artículo
Lenguaje:Español
Publicado: 2001
Materias:
R Medicina (General)
Acceso en línea:http://pa.bibdigital.ucc.edu.ar/3930/1/A_DodelsondeKremer_PaschiniCapra_Bacman_Argara%C3%B1a_Civallero_Kelley_Guelbert_Latini_NoherdeHalac_GinerAyala_Johnston_Proujansky.pdf
Aporte de:
Producción Académica Universidad Católica de Córdoba (UCCor) de Universidad Católica de Córdoba

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