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Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency

Archive ouverte | Rötig, Agnès | CCSD

International audience. Background and objectives: DNA polymerase subunit gamma (POLG) deficiency is likely the most frequent cause of nuclear-encoded mitochondrial disorders. POLG-related disorders reportedly const...

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Archive ouverte | Roux, Charles-Joris | CCSD

International audience. Background and purpose: Mitochondrial aminoacyl-tRNA synthetases-encoded by ARS2 genes-are evolutionarily conserved enzymes that catalyse the attachment of amino acids to their cognate tRNAs,...

Pitfalls in molecular diagnosis of Friedreich ataxia

Archive ouverte | Barcia, Giulia | CCSD

International audience. Freidreich ataxia (FRDA) is the most common hereditary ataxia, nearly 98% of patients harbouring homozygous GAA expansions in intron 1 of the FXN gene (NM\₀00144.4). The remaining patients ar...

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