Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic syndrome due to homozygous mutations of the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). Onset of symptoms occurred in the first few months of life with ptosis, restricted oc...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Salih, M, Oystreck, D, Al-Faky, Y, Kabiraj, M, Omer, M, Subahi, E, Beeson, D, Abu-Amero, K, Bosley, T
التنسيق:	Journal article
اللغة:	English
منشور في:	2011

مواد مشابهة

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Congenital myasthenic syndromes.
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