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

• Main Authors: Chiara Panicucci (Author), Maria Cristina Schiaffino (Author), Claudia Nesti (Author), Maria Derchi (Author), Gianluca Trocchio (Author), Mariasavina Severino (Author), Nicola Stagnaro (Author), Enrico Priolo (Author), Federico Zara (Author), Filippo M. Santorelli (Author), Claudio Bruno (Author)
• Format: Knjiga
• Izdano: BMC, 2022-10-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract 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 adultho...