Literature DB >> 6232547

[Rigid spine syndrome and its nosological borders. 2 cases].

G Serratrice, J F Pellissier, J Pouget, J L Gastaut.   

Abstract

The rigid spine syndrome is characterized clinically by rigidity due to deficient extensor muscles of the spine (chiefly cervical) and radiologically, by a normal spinal image. Electromyography demonstrates abnormalities suggestive of a myogenic process, and histology shows alterations of muscular fibres. From the case-records of two male patients aged 14 and 15 years respectively, a relationship could be established between various diseases having in common a rigid spine syndrome. These include congenital muscular dystrophias , sequelae of arthrogryposis, Emery - Dreifuss myopathy and myosclerosis .

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Year:  1984        PMID: 6232547

Source DB:  PubMed          Journal:  Presse Med        ISSN: 0755-4982            Impact factor:   1.228


  4 in total

1.  The rigid spine syndrome in two sisters.

Authors:  J A Vanneste; P B Augustijn; F C Stam
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-01       Impact factor: 10.154

2.  Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality.

Authors:  K Tanaka; T Yoshimura; H Muratani; J Kira; Y Itoyama; I Goto
Journal:  J Neurol       Date:  1989-01       Impact factor: 4.849

3.  The rigid spine syndrome--a myopathy of uncertain nosological position.

Authors:  W Poewe; H Willeit; E Sluga; U Mayr
Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-09       Impact factor: 10.154

4.  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

  4 in total

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