Congenital Myopathy Due to RyR1 Gene Mutation in a Newborn Masquerading as a Consequence of Hypoxic-ischemic Encephalopathy

• Principais autores: Yamini Patial (Autor), Rohit Anand (Autor)
• Formato: Livro
• Publicado em: Wolters Kluwer Medknow Publications, 2024-08-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Background: Congenital myopathies may be a cause of prolonged and persistent hypotonia and weakness in a newborn, which may be overlooked as a neurological consequence of hypoxic-ischemic encephalopathy. We report such a neonate which turned out to be a case of central core myopathy. Clinical Descri...