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Updated: Jul 23, 2025

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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
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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.
European Journal of Neurology
|July 11, 2023
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).
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Mitochondrial respiratory chain (MRC) defects lead to combined MRC dysfunctions (COXPDs) with diverse clinical and genetic profiles.
- TUFM gene variants are associated with COXPDs, typically presenting with severe, early-onset symptoms.
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