Literature DB >> 2226571

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments.

E Bertini1, C Bosman, M Bevilacqua, E Ricci, G M Gagliardi, F Parisi, S Servidei, C Dionisi-Vici, L Ballerini.   

Abstract

A girl affected by a restrictive cardiomyopathy with neuromuscular involvement is described. Morphological examination showed a pattern of multicore myopathy and with electron microscopy a sarcoplasmic accumulation of electron dense granular and filamentous material was demonstrated both in skeletal muscle and heart. This peculiar electron dense material corresponded to increased desmin in muscle and cardiac fibres and was demonstrated immunohistochemically.

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Year:  1990        PMID： 2226571     DOI： 10.1007/bf02072073

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  6 in total

1.  Storage of phosphorylated desmin in a familial myopathy.

Authors:  L Rappaport; F Contard; J L Samuel; C Delcayre; F Marotte; F Tomè; M Fardeau
Journal:  FEBS Lett       Date:  1988-04-25       Impact factor: 4.124

2.  Axonal filamentous spheroids associated with cardiomyopathy with "targetoid fibers". I. Clinical, histologic, and electron microscopic studies.

Authors:  H M Liu; M Gumbinas
Journal:  Neurology       Date:  1974-06       Impact factor: 9.910

3.  [A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)].

Authors:  M Fardeau; J Godet-Guillain; F M Tome; H Collin; S Gaudeau; C Boffety; P Vernant
Journal:  Rev Neurol (Paris)       Date:  1978 Jun-Jul       Impact factor: 2.607

4.  Dilated cardiomyopathy in multicore myopathy.

Authors:  A M Magliocco; L B Mitchell; A K Brownell; W M Lester
Journal:  Am J Cardiol       Date:  1989-01-01       Impact factor: 2.778

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.  Restrictive cardiomyopathy in children. Ultrastructural findings.

Authors:  M Toussaint; C Planche; E Villain; J Kachaner
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1987
  6 in total
  11 in total

Review 1.  Extracardiac medical and neuromuscular implications in restrictive cardiomyopathy.

Authors:  Claudia Stöllberger; Josef Finsterer
Journal:  Clin Cardiol       Date:  2007-08       Impact factor: 2.882

2.  Pioglitazone-induced heart failure in a patient with restrictive cardiomyopathy and metabolic myopathy.

Authors:  Josef Finsterer; Claudia Stöllberger
Journal:  Clin Res Cardiol       Date:  2009-02-09       Impact factor: 5.460

3.  Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy.

Authors:  M Ohkubo; T Ino; S Shimazaki; K Yabuto; R Okada; T Sato
Journal:  Pediatr Cardiol       Date:  1996 Jan-Feb       Impact factor: 1.655

4.  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

5.  Restrictive cardiomyopathies in childhood. Etiologies and natural history.

Authors:  S W Denfield; G Rosenthal; R J Gajarski; J T Bricker; K O Schowengerdt; J K Price; J A Towbin
Journal:  Tex Heart Inst J       Date:  1997

6.  Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture.

Authors:  K Andrä; H Lassmann; R Bittner; S Shorny; R Fässler; F Propst; G Wiche
Journal:  Genes Dev       Date:  1997-12-01       Impact factor: 11.361

Review 7.  Clinical Characteristics and Treatment of Cardiomyopathies in Children.

Authors:  Jack F Price; Aamir Jeewa; Susan W Denfield
Journal:  Curr Cardiol Rev       Date:  2016

Review 8.  Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Authors:  Tokunbor A Lawal; Joshua J Todd; Jessica W Witherspoon; Carsten G Bönnemann; James J Dowling; Susan L Hamilton; Katherine G Meilleur; Robert T Dirksen
Journal:  Skelet Muscle       Date:  2020-11-16       Impact factor: 4.912

9.  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 10.  Multi-minicore Disease.

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