DOK7 congenital myasthenic syndrome: case series and review of literature
DOK7 congenital myasthenic syndrome: case series and review of literature
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7 CMS requires different treatment than other CMS types. Regarding DOK7's special considerations and challen...
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Full title
DOK7 congenital myasthenic syndrome: case series and review of literature
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TN_cdi_doaj_primary_oai_doaj_org_article_33af266c53ba4db6b2e0ab438b7936b2
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_33af266c53ba4db6b2e0ab438b7936b2
Other Identifiers
ISSN
1471-2377
E-ISSN
1471-2377
DOI
10.1186/s12883-024-03713-0
