title: Nemaline myopathy with severe neonatal hypotonia and total ophthalmoplegia: a case report.
authors.affiliation: Children Hospital of Philadelphia, PA 19104, USA.
authors.forename: M C
authors.initials: MC
authors.lastname: Wilson
authors.forename: M P
authors.initials: MP
authors.lastname: Kolsky
authors.forename: R
authors.initials: R
authors.lastname: Chandra
mesh_terms: D001706:Biopsy; D001763:Blepharoptosis / Q000150:complications / Q000151:congenital / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009123:Muscle Hypotonia / Q000150:complications* / Q000151:congenital / Q000473:pathology; D018482:Muscle, Skeletal / Q000648:ultrastructure; D017696:Myopathies, Nemaline / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009886:Ophthalmoplegia / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D010375:Pedigree; D014057:Tomography, X-Ray Computed