Case report reveals misdiagnosed POLG-related ophthalmoplegia identified through whole-genome sequencing, indicating diagnostic potential.
A 55‐year‐old male developed POLG‐related ophthalmoplegia in 2015 and was misdiagnosed with seronegative myasthenia gravis for 10 years. Whole‐genome sequencing identified compound heterozygous POLG mutations, highlighting its value in diagnosing refractory neuromuscular disorders.
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Lu et al. (2026) studied this question.
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