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

Biochim Biophys Acta Mol Basis Dis

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:

Published: October 2024

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http://dx.doi.org/10.1016/j.bbadis.2024.167330	DOI Listing

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oculofacial apraxia

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