Literature DB >> 7919974

Two siblings with nemaline myopathy presenting with rigid spine syndrome.

H Topaloglu1, S Gögüs, K Yalaz, T Kücükali, A Serdaroglu.   

Abstract

Two siblings, ages 20 and 19 presented with more than 10 yr history of spinal rigidity and scoliosis. The parents were first cousins. Muscle biopsies were consistent with nemaline myopathy. This has been the first association between a familial rigid spine syndrome and nemaline myopathy.

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Year:  1994        PMID： 7919974     DOI： 10.1016/0960-8966(94)90028-0

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  5 in total

Review 1.  Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

Authors:  K N North; N G Laing; C Wallgren-Pettersson
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Authors:  B Moghadaszadeh; I Desguerre; H Topaloglu; F Muntoni; S Pavek; C Sewry; M Mayer; M Fardeau; F M Tomé; P Guicheney
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

3.  Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.

Authors:  Yuji Okamoto; Hiroshi Takashima; Itsuro Higuchi; Wataru Matsuyama; Masahito Suehara; Yasushi Nishihira; Akihiro Hashiguchi; Ryuki Hirano; Arlene R Ng; Masanori Nakagawa; Shuji Izumo; Mitsuhiro Osame; Kimiyoshi Arimura
Journal:  Neurogenetics       Date:  2006-06-15       Impact factor: 2.660

4.  Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Authors:  Mickael Tordjman; Ivana Dabaj; Pascal Laforet; Adrien Felter; Ana Ferreiro; Moustafa Biyoukar; Bruno Law-Ye; Edmar Zanoteli; Claudia Castiglioni; John Rendu; Christophe Beroud; Alexandre Chamouni; Pascale Richard; Dominique Mompoint; Susana Quijano-Roy; Robert-Yves Carlier
Journal:  Eur Radiol       Date:  2018-05-25       Impact factor: 5.315

5.  Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Authors:  Ana Ferreiro; Susana Quijano-Roy; Claire Pichereau; Behzad Moghadaszadeh; Nathalie Goemans; Carsten Bönnemann; Heinz Jungbluth; Volker Straub; Marcello Villanova; Jean-Paul Leroy; Norma B Romero; Jean-Jacques Martin; Francesco Muntoni; Thomas Voit; Brigitte Estournet; Pascale Richard; Michel Fardeau; Pascale Guicheney
Journal:  Am J Hum Genet       Date:  2002-08-21       Impact factor: 11.025
  5 in total

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