Work

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

Year: 2026

Type: article

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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.72337

Authors: Tanli Lu, Huadong Lv, Xiaodan Luo, Xiuying Liu

Institution: Guangxi Medical University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820