New variant in the FBXL4 gene - leading to mitochondrial DNA depletion syndrome

• Main Authors: Carolina Ferreira Gonçalves (Author), Patrícia Lipari Pinto (Author), Ana Raquel Claro (Author), Joana Coelho (Author), Sofia Quintas (Author), Márcia Rodrigues (Author), Paula Costa (Author), Ana Margalha Miranda (Author), Mónica Rebelo (Author), Célia Nogueira (Author), Patrícia Janeiro (Author), Ana Gaspar (Author)
• Format: Book
• Published: Hygeia Press di Corridori Marinella, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Defects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous. MTDPS is a rare autosomal recessive disease caused by a mutation of a nuclear gene named FBXL4 (F-box and leucine-rich repeat...