Article Text
Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Mitochondrial disease mimicking Charcot–Marie Tooth disease
Summary
Charcot–Marie tooth disease (CMT) is a heterogenous group of peripheral neuropathies caused by various genetic defects. Three cases of mitochondrial myopathy, neuropathy and gastrointestinal encephalopathy (MNGIE) which initially presented with a peripheral neuropathy resembling CMT are described here. The diagnosis in all three cases was made after they developed eye signs and abdominal complaints. Young patients with mutation negative CMT should be followed up to monitor for signs of MNGIE.
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Footnotes
Competing interests: none.