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The slow-channel congenital myasthenic syndrome is a frequent kinetic anomaly of the acetylcholine receptor (AChR). We report a family with a slow-channel congenital myasthenic syndrome that carries a novel mutation in the ϵ subunit of the AChR (p.Val259Leu). The family presents the classical clinical phenotype of slow-channel syndrome with phenotypic variability among the different members of the family.
The propositus (patient II2, fig 1) is a 27-year-old woman. Myasthenic symptoms began at the age of 17 years just after her first delivery. She complained of distal and proximal weakness of the upper limbs and diplopia in lateral gaze. Clinical examination revealed ophthalmoparesis, bilateral ptosis a proximal weakness of the upper limbs involving predominantly the right shoulder and a weakness of the finger and wrist extensors. At each delivery, she presented a transient worsening of her myasthenic symptoms. Patient I1, the 53-year-old father of the propositus, was suspected of having cervical torticollis at the age of 5 years and underwent surgery, which proved ineffective. Bilateral ptosis, ophthalmoplegia and weakness of the finger and wrist extensors and cervical muscles have been present since childhood.
Competing interests: None.
Funding: Supported by AP-HP (PHRC AOM 01036), INSERM networks, GIS for Rare Diseases and the Association Française contre les Myopathies. DH was the recipient of an AP-HP interface contract.
Ethics approval: Ethics approval was provided by the local committee of CHRU of Lille.
Patient consent: Obtained.