Congenital myasthenic syndromes in turkey: clinical clues and prognosis with long term follow-up


• We present clinical, electrophysiological and genetic findings of 69 patients from 51 families.• The most common CMS was primary acetylcholine receptor deficiency (31/51 families).• Fifteen families had COLQ, GFPT1, DOK7 deficiencies or slow channel CMS.• Distribution of muscle weakness and EMG were useful in giving a clue to the CMS subtype.• Due to the long follow-up, we were able to assess progression and to witness several pregnancies.


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