Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

• Main Authors: Ettore Piro (Author), Gregorio Serra (Author), Vincenzo Antona (Author), Mario Giuffrè (Author), Elisa Giorgio (Author), Fabio Sirchia (Author), Ingrid Anne Mandy Schierz (Author), Alfredo Brusco (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pen...