Nuclear-Mitochondrial Intergenomic Communication Disorders

• Author(s): Almeida, L.S. ; Nogueira, C. ; Vilarinho, L.
• Date: 2012
• Persistent ID: http://hdl.handle.net/10400.18/1055
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Intergenomic Communication disorders; mtDNA; Doenças Genéticas
• Document Type: Part of book or chapter of book
• Language: English

Description

The focus of this chapter is to review the clinical and molecular etiologies of nuclear defects involved in mtDNA stability and in mitochondrial protein synthesis. The overview done here will hopefully provide insights towards best diagnostic strategies of mitochondrial cross–talk disorders, being useful for clinicians when facing similar cases. Additionally we will present a diagnostic algorithm for these diseases based on our knowledge.