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22 June 2026 : Case report  Saudi Arabia

Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report

Challenging differential diagnosis, Congenital defects / diseases

Khaled Abdulwahab Amer ORCID logo AE 1*, Hanan Hassan Almalki ORCID logo AF 2, Faisal Saud Alhudaithi BD 3

DOI: 10.12659/AJCR.952887

Am J Case Rep 2026; 27:e952887

Table 2 Electrophysiological studies findings.

InvestigationResultInterpretation
Nerve conduction studyNormalNo large-fiber polyneuropathy, entrapment, or demyelination
Repetitive nerve stimulationNormalNo decremental or incremental responses
ElectromyographyNormalNo evidence of myopathic or neuropathic changes

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923