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

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...

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Principais autores: Yamini Patial (Autor), Rohit Anand (Autor)
Formato: Livro
Publicado em: Wolters Kluwer Medknow Publications, 2024-08-01T00:00:00Z.
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3rd Floor Main Library

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