Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion
早发性辅酶 Q10 缺乏症与共济失调和呼吸链功能障碍有关，这是由于新的致病性 COQ8A 变异（包括大的基因内缺失）引起的
期刊:JIMD Reports
影响因子:
doi:10.1002/jmd2.12107
Ana Cotta, Charlotte L Alston, Sidney Baptista-Junior, Julia F Paim, Elmano Carvalho, Monica M Navarro, Marie Appleton, Yi Shiau Ng, Jaquelin Valicek, Antonio L da-Cunha-Junior, Maria I Lima, Alessandra de la Rocque Ferreira, Reinaldo I Takata, Iain P Hargreaves, Gráinne S Gorman, Robert McFarland,
