TUFM variants lead to white matter abnormalities mimicking multiple sclerosis

Shihan Chen1, Grant A Mitchell2, Jean-Francois Soucy2,3

  • 1Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

PubMed
Summary

Mitochondrial respiratory chain defects can cause combined MRC dysfunctions (COXPDs). This case highlights a patient with TUFM gene variants presenting with COXPD4 and brain MRI findings mimicking multiple sclerosis (MS).