Before a spinal cord lesion in an m.3243A>G carrier is attributed to mitochondrial disease, all differential diagnoses must be excluded

Key Points

• This research aims to clarify the necessity of ruling out other possible causes for spinal cord lesions in individuals carrying the m.3243A>G mutation.
• Examined cases of spinal cord lesions in individuals with the m.3243A>G mutation
• Emphasized the process of differential diagnosis to ensure accurate attribution to mitochondrial disease
• Identified significant variation in spinal cord lesion presentations among carriers
• Recommended comprehensive evaluation to prevent misdiagnosis of mitochondrial disease in m.3243A>G carriers