Congenital Myopathy Due to RyR1 Gene Mutation in a Newborn Masquerading as a Consequence of Hypoxic-ischemic Encephalopathy
Author:
Affiliation:
1. Department of Ophthalmology, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India
2. Department of Neonatology, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India
Abstract
Publisher
Medknow
Reference8 articles.
1. Congenital myopathies:An update;Claeys;Dev Med Child Neurol,2020
2. Arare case of severe congenital RYR1-associated myopathy;Laforgia;Case Rep Genet,2018
3. Congenital myopathies with secondary neuromuscular transmission defects;a case report and review of the literature;Rodríguez Cruz;Neuromuscul Disord,2014
4. Approach to the diagnosis of congenital myopathies;North;Neuromuscul Disord,2014
5. Severe neonatal RYR1 myopathy with pathological features of congenital muscular dystrophy;Helbling;J Neuropathol Exp Neurol,2019
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