Literature DB >> 438838

Rigid spine syndrome.

I Goto, S Nagasaka, H Nagara, Y Kuroiwa.   

Abstract

A patient is described with distinctive clinical features including childhood onset of non-progressive muscle weakness, limitation of flexion of the neck and spine, scoliosis, and joint contracture. Muscle biopsy and electromyography showed findings suggestive of a myopathic disorder. The combination of these distinctive clinical features is termed the rigid spine syndrome. Only six cases have been reported in the literature to date.

Entities:  

Mesh：

Year:  1979        PMID： 438838      PMCID： PMC490733          DOI： 10.1136/jnnp.42.3.276

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  3 in total

1.  [New type of recessive X-linked muscular dystrophy: scapulo-humeral-distal muscular dystrophy with early contractures and cardiac arrhythmias].

Authors:  H W Rotthauwe; W Mortier; H Beyer
Journal:  Humangenetik       Date:  1972

2.  Recent advances in neuromuscular disorders.

Authors:  V Dubowitz
Journal:  Rheumatol Phys Med       Date:  1971-08

3.  Rigid spine syndrome. A type I fiber myopathy.

Authors:  A R Seay; F A Ziter; J H Petajan
Journal:  Arch Neurol       Date:  1977-02
  3 in total
  8 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.  The rigid spine syndrome.

Authors:  E T van Munster; E M Joosten; M A van Munster-Uijtdehaage; H J Kruls; H J ter Laak
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-11       Impact factor: 10.154

3.  The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases.

Authors:  E Bertini; R Marini; G Sabetta; G P Palmieri; L G Spagnoli; M L Vaccario; T de Barsy
Journal:  J Neurol       Date:  1986-08       Impact factor: 4.849

4.  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

5.  Rigid spine syndrome associated with tent-like configuration of the thoracic cage, cerebral lesion and delayed sexual maturation in three patients.

Authors:  A Jusić
Journal:  J Neurol       Date:  1985       Impact factor: 4.849

6.  Rigid spine syndrome: clinical and histological problems.

Authors:  I Goto; S Muraoka; N Fujii; M Ohta; Y Kuroiwa
Journal:  J Neurol       Date:  1981       Impact factor: 4.849

7.  Emery-Dreifuss syndrome.

Authors:  R K Petty; P K Thomas; D N Landon
Journal:  J Neurol       Date:  1986-04       Impact factor: 4.849

8.  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
  8 in total

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