Long term follow-up in two siblings with Sengers syndrome: Case report

BACKGROUND: Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to a...

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Detalles Bibliográficos
Autores principales: Panicucci, Chiara, Schiaffino, Maria Cristina, Nesti, Claudia, Derchi, Maria, Trocchio, Gianluca, Severino, Mariasavina, Stagnaro, Nicola, Priolo, Enrico, Zara, Federico, Santorelli, Filippo M., Bruno, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9575244/
https://www.ncbi.nlm.nih.gov/pubmed/36253788
http://dx.doi.org/10.1186/s13052-022-01370-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9575244/
https://www.ncbi.nlm.nih.gov/pubmed/36253788
http://dx.doi.org/10.1186/s13052-022-01370-y

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