A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia

Affiliations

• ¹ Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.
• ² Instituto de Investigaciones Químicas, Universidad de Sevilla-CSIC, Sevilla, Spain.
• ³ Redox Homeostasis Group, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
• ⁴ Department of Neuropathology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
• ⁵ Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
• ⁶ Mitochondrial & Neuromuscular Disorders Group, Genetics Department, Hospital 12 de Octubre Research Institute (imas12), Madrid, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
• ⁷ Instituto de Investigaciones Químicas, Universidad de Sevilla-CSIC, Sevilla, Spain. Electronic address: idiazmoreno@us.es.
• ⁸ Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain. Electronic address: cparadas@us.es.