Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

Congenital myasthenic syndromes due to DOK7 mutations cause fatigable limb girdle weakness. Treatment with ephedrine improves muscle strength. Salbutamol, a β(2)-adrenergic receptor agonist with fewer side effects and more readily available, has been effective in adult and anecdotal childhood cases....

সম্পূর্ণ বিবরণ

গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: Burke, G, Hiscock, A, Klein, A, Niks, E, Main, M, Manzur, A, Ng, J, de Vile, C, Muntoni, F, Beeson, D, Robb, S
বিন্যাস: Journal article
ভাষা:English
প্রকাশিত: 2013