Literature DB >> 8778704

Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy.

M Ohkubo1, T Ino, S Shimazaki, K Yabuto, R Okada, T Sato.   

Abstract

A boy with multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy is described. Light microscopy of biopsy samples from the skeletal muscle and myocardium revealed multiple cores in the muscle fibers in the former but their absence in the latter. These results suggest that the pathogenesis of the histologic changes might differ between skeletal muscle and myocardium, and that further electron microscopic examination be done on both types of specimen. The prognosis of multicore myopathy is not usually good when cardiac involvement is present.

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Year:  1996        PMID: 8778704     DOI: 10.1007/bf02505814

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN: 0172-0643            Impact factor:   1.655


  19 in total

1.  A new congenital non-progressive myopathy.

Authors:  K R MAGEE; G M SHY
Journal:  Brain       Date:  1956-12       Impact factor: 13.501

2.  Multiple pterygium syndrome: a case complicated by malignant hyperthermia.

Authors:  L K Robinson; N C O'Brien; M C Puckett; M A Cox
Journal:  Clin Genet       Date:  1987-07       Impact factor: 4.438

3.  Hypertrophy and cardiomyopathy in the neuromuscular diseases.

Authors:  R C Griggs
Journal:  Circ Res       Date:  1974-08       Impact factor: 17.367

4.  Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments.

Authors:  E Bertini; C Bosman; M Bevilacqua; E Ricci; G M Gagliardi; F Parisi; S Servidei; C Dionisi-Vici; L Ballerini
Journal:  Eur J Pediatr       Date:  1990-09       Impact factor: 3.183

5.  Multicore myopathy: not always a benign entity.

Authors:  A Shuaib; J M Martin; L B Mitchell; A K Brownell
Journal:  Can J Neurol Sci       Date:  1988-02       Impact factor: 2.104

6.  Progressive form of multiple pterygium syndrome in association with nemalin-myopathy: report of a female followed for twelve years.

Authors:  F Papadia; N Longo; L Serlenga; G Porzio
Journal:  Am J Med Genet       Date:  1987-01

7.  Familial multicore disease with focal loss of cross-striations and ophthalmoplegia.

Authors:  M Swash; M S Schwartz
Journal:  J Neurol Sci       Date:  1981-10       Impact factor: 3.181

8.  Myopathy with multiple minicore--report of two siblings.

Authors:  J R Ricoy; A Cabello; G Goizueta
Journal:  J Neurol Sci       Date:  1980-10       Impact factor: 3.181

9.  Familial focal loss of cross striations.

Authors:  G K van Wijngaarden; J Bethlem; K P Dingemans; C Coërs; N Telerman-Toppet; J M Gérard
Journal:  J Neurol       Date:  1977-10-07       Impact factor: 4.849

10.  The natural history of minicore-multicore myopathy.

Authors:  P K Penegyres; B A Kakulas
Journal:  Muscle Nerve       Date:  1991-05       Impact factor: 3.217

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  3 in total

1.  Consensus statement on standard of care for congenital myopathies.

Authors:  Ching H Wang; James J Dowling; Kathryn North; Mary K Schroth; Thomas Sejersen; Frederic Shapiro; Jonathan Bellini; Hali Weiss; Marc Guillet; Kimberly Amburgey; Susan Apkon; Enrico Bertini; Carsten Bonnemann; Nigel Clarke; Anne M Connolly; Brigitte Estournet-Mathiaud; Dominic Fitzgerald; Julaine M Florence; Richard Gee; Juliana Gurgel-Giannetti; Allan M Glanzman; Brittany Hofmeister; Heinz Jungbluth; Anastassios C Koumbourlis; Nigel G Laing; Marion Main; Leslie A Morrison; Craig Munns; Kristy Rose; Pamela M Schuler; Caroline Sewry; Kari Storhaug; Mariz Vainzof; Nanci Yuan
Journal:  J Child Neurol       Date:  2012-03       Impact factor: 1.987

2.  Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

Authors:  Claire Chauveau; Carsten G Bonnemann; Cedric Julien; Ay Lin Kho; Harold Marks; Beril Talim; Philippe Maury; Marie Christine Arne-Bes; Emmanuelle Uro-Coste; Alexander Alexandrovich; Anna Vihola; Sebastian Schafer; Beth Kaufmann; Livija Medne; Norbert Hübner; A Reghan Foley; Mariarita Santi; Bjarne Udd; Haluk Topaloglu; Steven A Moore; Michael Gotthardt; Mark E Samuels; Mathias Gautel; Ana Ferreiro
Journal:  Hum Mol Genet       Date:  2013-10-08       Impact factor: 6.150

Review 3.  Multi-minicore Disease.

Authors:  Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2007-07-13       Impact factor: 4.123

  3 in total

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