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Literature summary for 2.3.1.6 extracted from
- Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure (2009), Neonatology, 95, 183-186.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | a severe case of congenital myasthenia gravis in a Chinese newborn is reported who presents with complete ptosis, severe hypotonia, dysphagia and respiratory insufficiency with recurrent apnea that requires mechanical ventilatory support since birth. The infant has heterozygous mutations in the choline acetyltransferase genes, p.T553N and p.S704P | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| choline acetyltransferase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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