Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy
Neurol India
.
2024 Jan 1;72(1):175-177.
doi: 10.4103/neurol-india.Neurol-India-D-23-00582.
Epub 2024 Feb 29.
Authors
Aakash Mahesan
1
,
Gautam Kamila
1
,
Richa Tiwari
1
,
Sumanta Das
2
,
Mehar C Sharma
2
,
Prashant Jauhari
1
,
Biswaroop Chakrabarty
1
,
Sheffali Gulati
1
Affiliations
1
Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
2
Department of Pathology, AIIMS, New Delhi, India.
PMID:
38443029
DOI:
10.4103/neurol-india.Neurol-India-D-23-00582
No abstract available
MeSH terms
Glycosylation
Humans
Muscular Diseases*
Mutation / genetics
Myasthenic Syndromes, Congenital* / diagnosis
Myasthenic Syndromes, Congenital* / genetics
Myotonia Congenita*