Abstract
Congenital Myasthenic Syndromes (CMS) are heterogeneous genetic diseases. Two siblings presented with progressive limb girdle weakness without significant fluctuations or ocular muscle weakness. Repetitive nerve stimulation showed a decremental response and there was no response to pyridostigmine therapy. A trial of salbutamol produced a remarkable, consistent improvement. Mutation in exon 5 of the DOK7 gene was found in both siblings. Patients with congenital myasthenic syndrome with DOK 7 mutation benefit remarkably with salbutamol.
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