Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Autosomal recessive cerebellar ataxia 2 (ARCA2) is a recently identified recessive ataxia due to ubiquinone deficiency and biallelic mutations in the ADCK3 gene. The phenotype of the twenty-one patients reported worldwide varies greatly. Thus, it is difficult to decide which ataxic patients are good...

Full description

Bibliographic Details
Main Authors: Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, Nourisson, Elsa, Chantot-Bastaraud, Sandra, Lebre, Anne-Sophie, Rio, Marlène, Chaix, Yves, Bieth, Eric, Roze, Emmanuel, Bonnet, Isabelle, Canaple, Sandrine, Rastel, Coralie, Brice, Alexis, Rötig, Agnès, Desguerre, Isabelle, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu
Format: Online
Language:English
Published: BioMed Central 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843540/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843540/

Similar Items