[저자] Nunziata Maio, Rotem Orbach, Irina T. Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot, Juliane Mueller, Tracey Willis, Sumit Verma, Stojan Peric, Deepa Krishnakumar, Sniya Sudhakar, A. Reghan Foley, Sarah Silverstein, Ganka Douglas, Lynn Pais, Stephanie DiTroia, Christopher Grunseich, Ying Hu, Caroline Sewry, Anna Sarkozy, Volker Straub, Francesco Muntoni, Tracey A. Rouault, Carsten G. Bönnemann
[Category] update2024,
[Article Type] Research Article
[Source] PMC
Patients with loss of function in CIAO1, which is required to maintain genome integrity, experience multisystem involvement, including muscle weakness, respiratory insufficiency, and neurological comorbidities.
All Keywords
【저자키워드】 metabolism, Genetic diseases, DNA repair, Muscle biology,