Diagnosis of myasthenia gravis

RT Rousseff - Journal of clinical medicine, 2021 - mdpi.com
The diagnosis of autoimmune Myasthenia Gravis (MG) remains clinical and rests on the
history and physical findings of fatigable, fluctuating muscle weakness in a specific …

Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report …

Z Feng, R Lai, J Wei, X Liu, X Chen, Y Liu… - Frontiers in …, 2024 - frontiersin.org
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial
encephalomyopathy that is characterized by progressive ptosis and impaired ocular motility …

Clinical features and treatment status of antiacetylcholine receptor antibody-positive ocular myasthenia gravis

Y Isshiki, O Mimura, F Gomi - Japanese Journal of Ophthalmology, 2020 - Springer
Purpose To clarify the factors predictive of progression from ocular myasthenia gravis (OMG)
to generalized MG (GMG) among patients with positive antiacetylcholine receptor antibodies …

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

CG Tay, CY Fong, L Li, V Ganesan… - Journal of Clinical …, 2020 - jocn-journal.com
Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder
which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of …

A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children

KA Tan, HB Chew, Y Yacob… - Journal of Pediatric …, 2022 - thieme-connect.com
Congenital myasthenic syndrome (CMS) is an uncommon inherited neuromuscular junction
disease. The clinical presentation of this disorder is diverse. Typically patients with this …

Strabismus in chronic progressive external ophthalmoplegia

JY Kim, HK Yang, N Kim, MJ Kim, SI Cho… - Acta …, 2021 - Wiley Online Library
Purpose To elucidate the patterns of strabismus and ophthalmoplegia associated with
chronic progressive external ophthalmoplegia (CPEO) confirmed by mitochondrial DNA …

Vertical asymmetric mitochondrial ophthalmoplegia

SL Pineles, RA Lewis… - Canadian …, 2019 - canadianjournalofophthalmology.ca
A 53-year-old female presented with a 2-year history of left upper eyelid blepharoptosis that
began acutely. She had attributed the ptosis to contact lens usage and did not seek medical …