Literature DB >> 12564770

Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy.

Kiyotaka Suwa1, Masashi Mizuguchi, Mariko Y Momoi, Minako Nakamura, Kunimasa Arima, Hirofumi Komaki, Ikuya Nonaka.   

Abstract

A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant presence of these two types of sarcoplasmic inclusion has been found in only a few cases. However, these cases suggest that the sarcoplasmic inclusions may be formed, at least partially, by common mechanisms.

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Year:  2002        PMID: 12564770     DOI: 10.1046/j.1440-1789.2002.00461.x

Source DB:  PubMed          Journal:  Neuropathology        ISSN: 0919-6544            Impact factor:   1.906


  2 in total

1.  Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.

Authors:  Sandra Donkervoort; Sophelia H S Chan; Leslie H Hayes; Nathaniel Bradley; David Nguyen; Meganne E Leach; Payam Mohassel; Ying Hu; Mathula Thangarajh; Diana Bharucha-Goebel; Amanda Kan; Ronnie S L Ho; Christine A Reyes; Jessica Nance; Steven A Moore; A Reghan Foley; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2017-03-02       Impact factor: 4.296

2.  Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

Authors:  Clémence Labasse; Guy Brochier; Ana-Lia Taratuto; Bruno Cadot; John Rendu; Soledad Monges; Valérie Biancalana; Susana Quijano-Roy; Mai Thao Bui; Anaïs Chanut; Angéline Madelaine; Emmanuelle Lacène; Maud Beuvin; Helge Amthor; Laurent Servais; Yvan de Feraudy; Marcela Erro; Maria Saccoliti; Osorio Abath Neto; Julien Fauré; Béatrice Lannes; Vincent Laugel; Sandra Coppens; Fabiana Lubieniecki; Ana Buj Bello; Nigel Laing; Teresinha Evangelista; Jocelyn Laporte; Johann Böhm; Norma B Romero
Journal:  Acta Neuropathol Commun       Date:  2022-07-09       Impact factor: 7.578

  2 in total

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