A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members

Author:

Alsallum Mohammed S.ORCID,Alshareef Aysha,Abuzinadah Ahmad R.,Bamaga Ahmed K.,Dallol Ashraf

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference19 articles.

1. Congenital myasthenic syndromes in 2012;Engel;Curr. Neurol. Neurosci. Rep.,2012

2. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7;Ben Ammar;J. Neurol.,2010

3. Myasthenic syndrome caused by mutation of the SCN4A sodium channel;Tsujino;Proc. Natl. Acad. Sci. U. S. A.,2003

4. Variable phenotypes associated with mutations in DOK7;Anderson;Muscle Nerve,2008

5. DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children;Klein;Neuromuscul. Disord.,2013

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