Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy
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چکیده
منابع مشابه
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and prospective cohort study in eight European patients manifesting from birth to 12 years. Five patients showed limb-girdle and facial weakness, three a floppy infant syndrome with bulbar symptoms and/or respiratory distress. Ephedrine was started with ...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2014
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.54.561