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

• Κύριοι συγγραφείς: Yamini Patial (Συγγραφέας), Rohit Anand (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Wolters Kluwer Medknow Publications, 2024-08-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...