1. Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation – An Error of Glycosylation Masquerading as a Congenital Myopathy.
- Author
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Mahesan, Aakash, Kamila, Gautam, Tiwari, Richa, Das, Sumanta, Sharma, Mehar, Jauhari, Prashant, Chakrabarty, Biswaroop, and Gulati, Sheffali
- Subjects
MUSCLE weakness ,GENETIC mutation ,GLYCOSYLATION ,NEMALINE myopathy ,CONGENITAL myasthenic syndromes ,MUSCLE diseases - Abstract
This article discusses a case of congenital myasthenia syndrome (CMS) caused by a novel DPAGT1 gene mutation. CMS is a group of myasthenia syndromes that result from impaired transmission at the neuromuscular junction due to defective proteins. DPAGT1 is a gene responsible for glycosylation, and mutations in this gene can lead to CMS. The patient in this case was a 10-year-old girl who presented with proximal weakness and limited craniobulbar involvement. Next-generation sequencing revealed a compound heterozygous pathogenic mutation in DPAGT1, confirming the diagnosis of CMS. The patient showed significant improvement with treatment using pyridostigmine. This article provides valuable insights into the genetic basis and clinical presentation of CMS caused by DPAGT1 gene mutations. [Extracted from the article]
- Published
- 2024
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