Decades of Misdiagnosis as Myasthenia Gravis: Late‐Onset <scp>POLG</scp> ‐Related Ophthalmoplegia Unveiled by Whole‐Genome Sequencing

ABSTRACT 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.

Publication Details

Journal
Clinical Case Reports
Published
2026-03-23
DOI
https://doi.org/10.1002/ccr3.72337
Primary Topic
Myasthenia Gravis and Thymoma
Type
article
Field-Weighted Citation Impact
0.00
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article

Decades of Misdiagnosis as Myasthenia Gravis: Late‐Onset POLG ‐Related Ophthalmoplegia Unveiled by Whole‐Genome Sequencing

Clinical Case Reports
Myasthenia Gravis and Thymoma
article

Decades of Misdiagnosis as Myasthenia Gravis: Late‐Onset POLG ‐Related Ophthalmoplegia Unveiled by Whole‐Genome Sequencing

article en

Abstract

ABSTRACT 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.

Clinical Case ReportsVol. 14(4)
Openalex Percentile: Top 19%
Myasthenia Gravis and Thymoma
DOIOpen Access PDFOpenAlex
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Decades of Misdiagnosis as Myasthenia Gravis: Late‐Onset <scp>POLG</scp> ‐Related Ophthalmoplegia Unveiled by Whole‐Genome Sequencing · Clinical Case Reports (2026) | TGRS Research Map | TGRS