A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes
Chao Shen,
Kitty Wang,
Wei Li,
Alvaro Serrano,
Kelly Powers,
Chengwan Zhang,
Jianjun Chen,
Miao Sun
Affiliations
Chao Shen
Department of Systems Biology, Beckman Research Institute of City of Hope, Monrovia, CA 91016, USA
Kitty Wang
Department of Systems Biology, Beckman Research Institute of City of Hope, Monrovia, CA 91016, USA
Wei Li
Department of Systems Biology, Beckman Research Institute of City of Hope, Monrovia, CA 91016, USA
Alvaro Serrano
Division of Medical Genetics, Department of Pediatrics, Children’s Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA
Kelly Powers
Division of Neurology, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA
Chengwan Zhang
Department of Systems Biology, Beckman Research Institute of City of Hope, Monrovia, CA 91016, USA
Jianjun Chen
Department of Systems Biology, Beckman Research Institute of City of Hope, Monrovia, CA 91016, USA; Corresponding author.
Miao Sun
Division of Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA; Corresponding author.