Literature DB >> 10328285

Nemaline myopathy and cardiomyopathy.

M L Skyllouriotis1, M Marx, P Skyllouriotis, R Bittner, M Wimmer.   

Abstract

A case report is presented in which a 4-year-old male is diagnosed with hypertrophic cardiomyopathy, respiratory distress, muscle hypotonia, and psychomotor retardation. Electron microscopic study of skeletal muscle biopsy revealed pathologic changes typical of congenital nemaline myopathy, and biochemical analysis revealed a disorder of mitochondrial fatty acid oxidation. Therefore a previously undescribed combination of a structural and metabolic myopathy is reported.

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Year:  1999        PMID： 10328285     DOI： 10.1016/s0887-8994(98)00158-1

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  5 in total

1.  Ultrastructural changes in cardiac myocytes from Boxer dogs with arrhythmogenic right ventricular cardiomyopathy.

Authors:  Eva M Oxford; Charles G Danko; Bruce G Kornreich; Karen Maass; Shari A Hemsley; Dima Raskolnikov; Philip R Fox; Mario Delmar; N Sydney Moïse
Journal:  J Vet Cardiol       Date:  2011-06-01       Impact factor: 1.701

2.  Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.

Authors:  Maria Chatzifrangkeskou; David Yadin; Thibaut Marais; Solenne Chardonnet; Mathilde Cohen-Tannoudji; Nathalie Mougenot; Alain Schmitt; Silvia Crasto; Elisa Di Pasquale; Coline Macquart; Yannick Tanguy; Imen Jebeniani; Michel Pucéat; Blanca Morales Rodriguez; Wolfgang H Goldmann; Matteo Dal Ferro; Maria-Grazia Biferi; Petra Knaus; Gisèle Bonne; Howard J Worman; Antoine Muchir
Journal:  Hum Mol Genet       Date:  2018-09-01       Impact factor: 6.150

3.  Congenital myopathies are mainly associated with a mild cardiac phenotype.

Authors:  Helle Petri; Karim Wahbi; Nanna Witting; Lars Køber; Henning Bundgaard; Emna Kamoun; Geoffroy Vellieux; Tanya Stojkovic; Anthony Béhin; Pascal Laforet; John Vissing
Journal:  J Neurol       Date:  2019-03-14       Impact factor: 4.849

4.  A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.

Authors:  Edoardo Malfatti; Johann Böhm; Emmanuelle Lacène; Maud Beuvin; Norma B Romero; Jocelyn Laporte
Journal:  J Neuromuscul Dis       Date:  2015-09-02

5.  Potential causes of sudden cardiac death in nemaline myopathy.

Authors:  Josef Finsterer; Marlies Frank
Journal:  Ital J Pediatr       Date:  2015-09-29       Impact factor: 2.638
  5 in total

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