title: [Severe and mild forms of nemaline myopathy: a report of three cases].
abstract: Three new cases of two different forms of congenital nemaline myopathy are reported. Two of them represent a severe neonatal form. These cases were presented as a floppy infant syndrome. Although neither of them needed intensive care, they had feeding difficulties and one needed a feeding-tube for a period of time. Both of the patients showed a very severe motor delay and neither could manage to walk independently. During their lives, they suffered from repeated pneumonias, which was the cause of death in both cases before the age of two years. The mild congenital type represents a more benign form. Although hypotonic and weak, the patient managed to walk independently before two years of age. The weakness was spread all over, but was focused in the face, extensors of the neck and axial muscles. At 9 years of age, the patient has not experienced any respiratory trouble. The CK (creatine kinase) test were normal in all patients, but the EMG (electromyogram) showed different electromyographic patterns. The rods were in subsarcolemic positions, cytoplasmic positions or in both positions.
authors.affiliation: Unitat de Patología Neuromuscular, Hospital Sant Joan de Déu, Barcelona.
authors.forename: J
authors.initials: J
authors.lastname: Colomer Oferil
authors.forename: J
authors.initials: J
authors.lastname: López-Castillo
authors.forename: P
authors.initials: P
authors.lastname: Poo Argüelles
authors.forename: J
authors.initials: J
authors.lastname: Vila Torres
authors.forename: E
authors.initials: E
authors.lastname: Fernández-Alvarez
mesh_terms: D001706:Biopsy; D009202:Cardiomyopathies / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D002675:Child, Preschool; D004576:Electromyography; D006321:Heart / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008928:Mitochondria / Q000648:ultrastructure; D009069:Movement Disorders / Q000175:diagnosis / Q000209:etiology; D009135:Muscular Diseases / Q000175:diagnosis / Q000209:etiology; D017696:Myopathies, Nemaline / Q000150:complications / Q000175:diagnosis*; D009412:Nerve Fibers / Q000473:pathology; D017948:Retinal Rod Photoreceptor Cells / Q000648:ultrastructure
vernacular_title: Miopatía nemalínica: forma congénita neonatal y moderada a propósito de tres observaciones.