A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes

Affiliations

• ¹ Department of Systems Biology, Beckman Research Institute of City of Hope, Monrovia, CA 91016, USA.
• ² Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA.
• ³ Division of Neurology, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
• ⁴ 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.