Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare. However, because of the available therapeutic options, it is still clinically important to achieve a correct diagnosis in these patients. We report an adult patient with ophthalmoplegia and nonfluctuating limb-girdle syndrome. For almost 20 years, a congenital myopathy or mitochondriopathy had been suspected before CMS was diagnosed caused by an epsilon subunit mutation of the acetylcholine receptor (ε1276delG).
- Acetylcholine esterase inhibitor
- Congenital myasthenic syndrome
- Congenital myopathy
ASJC Scopus subject areas
- Clinical Neurology
- Psychiatry and Mental health