Literature DB >> 3025374

The rigid spine syndrome.

E T van Munster, E M Joosten, M A van Munster-Uijtdehaage, H J Kruls, H J ter Laak.   

Abstract

Four patients are reported, 3 females and 1 male, with (as a prominent symptom of muscle disease) limitation of flexion of cervical and dorsolumbar spine. The nosological classification of these cases is discussed. In two patients there was evidence of an inclusion body myositis. At necropsy one of these patients had a remarkable distribution of muscle changes.

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Year:  1986        PMID： 3025374      PMCID： PMC1029079          DOI： 10.1136/jnnp.49.11.1292

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


  18 in total

1.  [A new x-chromosomal muscular dystrophy].

Authors:  P E BECKER; F KIENER
Journal:  Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr       Date:  1955

2.  An unusual family of benign "X" linked muscular dystrophy with cardiac involvement.

Authors:  R S Wadia; S U Wadgaonkar; R B Amin; H V Sardesai
Journal:  J Med Genet       Date:  1976-10       Impact factor: 6.318

3.  X-linked scapuloperoneal syndrome.

Authors:  P K Thomas; D B Calne; C F Elliott
Journal:  J Neurol Neurosurg Psychiatry       Date:  1972-04       Impact factor: 10.154

4.  [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

5.  Fibre type disproportion in the rigid spine syndrome.

Authors:  H H Goebel; H G Lenard; W Görke; K Kunze
Journal:  Neuropadiatrie       Date:  1977-11

6.  Recent advances in neuromuscular disorders.

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

7.  Unusual type of benign x-linked muscular dystrophy.

Authors:  A E Emery; F E Dreifuss
Journal:  J Neurol Neurosurg Psychiatry       Date:  1966-08       Impact factor: 10.154

8.  Rigid spine syndrome and fatal cardiomyopathy.

Authors:  A F Colver; C R Steer; M J Godman; W S Uttley
Journal:  Arch Dis Child       Date:  1981-02       Impact factor: 3.791

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

Authors:  A R Seay; F A Ziter; J H Petajan
Journal:  Arch Neurol       Date:  1977-02

10.  Rigid spine syndrome.

Authors:  I Goto; S Nagasaka; H Nagara; Y Kuroiwa
Journal:  J Neurol Neurosurg Psychiatry       Date:  1979-03       Impact factor: 10.154
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  7 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.  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

3.  Rigid spine syndrome with respiratory failure.

Authors:  H Morita; K Kondo; K Hoshino; K Maruyama; N Yanagisawa
Journal:  J Neurol Neurosurg Psychiatry       Date:  1990-09       Impact factor: 10.154

4.  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

5.  Rigid spine syndrome: a noninvasive cardiac evaluation.

Authors:  Joerg-Patrick Stübgen
Journal:  Pediatr Cardiol       Date:  2007-09-05       Impact factor: 1.655

6.  Rigid spine syndrome: a radiologic and manometric study of the pharynx and esophagus.

Authors:  Joerg-Patrick Stübgen
Journal:  Dysphagia       Date:  2007-08-13       Impact factor: 3.438

7.  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
  7 in total

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