Literature DB >> 16477620

Intranuclear nemaline rod myopathy.

Vassil Kaimaktchiev1, Hans Goebel, Nigel Laing, Michael Narus, Douglas Weeks, Randal Nixon.   

Abstract

The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for alpha-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.

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Year:  2006        PMID： 16477620     DOI： 10.1002/mus.20521

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


  6 in total

1.  Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Authors:  Nigel G Laing; Danielle E Dye; Carina Wallgren-Pettersson; Gabriele Richard; Nicole Monnier; Suzanne Lillis; Thomas L Winder; Hanns Lochmüller; Claudio Graziano; Stella Mitrani-Rosenbaum; Darren Twomey; John C Sparrow; Alan H Beggs; Kristen J Nowak
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

2.  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

3.  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

4.  Clinical heterogeneity in Korean patients with nemaline myopathy.

Authors:  Ji-Man Hong; Seung-Min Kim; Il-Nam Sunwoo; Se-Hoon Kim; Tai-Seung Kim; Dong-Suk Shim; Young-Chul Choi
Journal:  Yonsei Med J       Date:  2010-02-12       Impact factor: 2.759

Review 5.  Pathological defects in congenital myopathies.

Authors:  Caroline A Sewry
Journal:  J Muscle Res Cell Motil       Date:  2008-12-30       Impact factor: 2.698

6.  Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes.

Authors:  Friederike S Bathe; Heidi Rommelaere; Laura M Machesky
Journal:  BMC Cell Biol       Date:  2007-01-16       Impact factor: 4.241
  6 in total

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