Early fatal nemaline myopathy: case report and review / Henning SCHMALBRUCH in Developmental Medicine & Child Neurology, 29-6 (December 1987)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 29-6 (December 1987) . - p.800-804 Titre : Early fatal nemaline myopathy: case report and review Type de document : Texte imprimé et/ou numérique Auteurs : Henning SCHMALBRUCH, Auteur ; Zofia KAMIENIECKA, Auteur ; Mette ARROE, Auteur Année de publication : 1987 Article en page(s) : p.800-804 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A newborn girl with atonia and arthrogryposis multiplex required mechanical ventilation; she died on the 14th day. Postmortem muscle histology disclosed nemaline myopathy with a lack of myofibrils. Peripheral nerves appeared to be normal. The parents are first cousins. The findings for 13 other patients who died from nemaline myopathy within the first year of life are reviewed. It is suggested that early fatal cases, in contrast to patients with the 'benign' childhood form, are homozygotic for the disease gene, and that the myopathy results from abnormal myosin synthesis. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=631 [article] Early fatal nemaline myopathy: case report and review [Texte imprimé et/ou numérique] / Henning SCHMALBRUCH, Auteur ; Zofia KAMIENIECKA, Auteur ; Mette ARROE, Auteur . - 1987 . - p.800-804. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 29-6 (December 1987) . - p.800-804 Index. décimale : PER Périodiques Résumé : A newborn girl with atonia and arthrogryposis multiplex required mechanical ventilation; she died on the 14th day. Postmortem muscle histology disclosed nemaline myopathy with a lack of myofibrils. Peripheral nerves appeared to be normal. The parents are first cousins. The findings for 13 other patients who died from nemaline myopathy within the first year of life are reviewed. It is suggested that early fatal cases, in contrast to patients with the 'benign' childhood form, are homozygotic for the disease gene, and that the myopathy results from abnormal myosin synthesis. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=631

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