Literature DB >> 3556789

Non-progressive central core disease with severe congenital scoliosis: a case report.

L Merlini, P Mattutini, S Bonfiglioli, C Granata.   

Abstract

An extremely unusual case of central core disease combined with a congenital spine deformity is described. The congenital myopathy was non-progressive, but the scoliotic curve worsened markedly. This case was characterised also by the type of squatting ambulation the child used until the age of 12, when the limb contractures were corrected surgically and with casting, permitting her to walk in an upright position. It was not feasible to perform spinal surgery.

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Year:  1987        PMID: 3556789     DOI: 10.1111/j.1469-8749.1987.tb02114.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  7 in total

1.  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

2.  Progressive scoliosis in central core disease.

Authors:  Kirsten D Mertz; Bernhard Jost; Markus Glatzel; Kan Min
Journal:  Eur Spine J       Date:  2005-05-31       Impact factor: 3.134

3.  Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers.

Authors:  Shiro Imagama; Noriaki Kawakami; Taichi Tsuji; Tetsuya Ohara; Naoki Ishiguro
Journal:  Eur Spine J       Date:  2011-12-23       Impact factor: 3.134

Review 4.  Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.

Authors:  N C Voermans; C G Bonnemann; B C J Hamel; H Jungbluth; B G van Engelen
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

Review 5.  Congenital scoliosis in a neonate: can a neonatologist ignore it?

Authors:  S Jog; S Patole; J Whitehall
Journal:  Postgrad Med J       Date:  2002-08       Impact factor: 2.401

6.  Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?

Authors:  Pierpaolo Iodice; Simona Boncompagni; Laura Pietrangelo; Lucia Galli; Enrico Pierantozzi; Daniela Rossi; Aurora Fusella; Massimo Caulo; Helmut Kern; Vincenzo Sorrentino; Feliciano Protasi
Journal:  Front Neurol       Date:  2019-05-29       Impact factor: 4.003

Review 7.  Central core disease.

Authors:  Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2007-05-15       Impact factor: 4.123

  7 in total

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