A Pediatric Case of ICOLQ/I-Related Congenital Myasthenic Syndrome with Marked Fatigue
A Pediatric Case of ICOLQ/I-Related Congenital Myasthenic Syndrome with Marked Fatigue
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Publisher
MDPI AG
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Language
English
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Publisher
MDPI AG
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Scope and Contents
Contents
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous inherited disorder that is treatable. Although the disease usually develops at birth or during infancy, some patients develop the disease in the second to third decades of life. Collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ)-related CMS is CMS w...
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Full title
A Pediatric Case of ICOLQ/I-Related Congenital Myasthenic Syndrome with Marked Fatigue
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TN_cdi_gale_infotracmisc_A750888412
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A750888412
Other Identifiers
ISSN
2227-9067
E-ISSN
2227-9067
DOI
10.3390/children10050769
