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Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy.
Mahesan, Aakash; Kamila, Gautam; Tiwari, Richa; Das, Sumanta; Sharma, Mehar C; Jauhari, Prashant; Chakrabarty, Biswaroop; Gulati, Sheffali.
Affiliation
  • Mahesan A; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
  • Kamila G; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
  • Tiwari R; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
  • Das S; Department of Pathology, AIIMS, New Delhi, India.
  • Sharma MC; Department of Pathology, AIIMS, New Delhi, India.
  • Jauhari P; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
  • Chakrabarty B; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
  • Gulati S; Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, AIIMS, New Delhi, India.
Neurol India ; 72(1): 175-177, 2024 Jan 01.
Article in En | MEDLINE | ID: mdl-38443029
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myasthenic Syndromes, Congenital / Muscular Diseases / Myotonia Congenita Limits: Humans Language: En Journal: Neurol India Year: 2024 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myasthenic Syndromes, Congenital / Muscular Diseases / Myotonia Congenita Limits: Humans Language: En Journal: Neurol India Year: 2024 Document type: Article Affiliation country: