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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-38443029
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas / Doenças Musculares / Miotonia Congênita Limite: Humans Idioma: En Revista: Neurol India Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Índia
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas / Doenças Musculares / Miotonia Congênita Limite: Humans Idioma: En Revista: Neurol India Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Índia