Literature DB >> 3629076

[Multiminicore disease in a rigid spine syndrome].

M Ben Hamida, F Hentati, C Ben Hamida.   

Abstract

The case of a 15 year-old girl, who had difficulties in walking from early childhood is reported. The clinical picture was that of the rigid spine syndrome, spine rigidity being associated with retractions and diffuse amyotrophy of the upper limbs. Histochemical and ultra-structural studies of the muscle showed typical multiminicores. The multiminicore myopathy has not particular clinical features. In the rigid spine syndrome various histological changes can be found. For these reasons, we think that the rigid spine syndrome should be classified within the group of congenital myopathies.

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Year:  1987        PMID: 3629076

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  3 in total

1.  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

2.  Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.

Authors:  L Palmucci; T Mongini; C Doriguzzi; M Maniscalco; D Schiffer
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-01       Impact factor: 10.154

3.  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

  3 in total

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