Literature DB >> 687182

Common origin of rods, cores, miniature cores, and focal loss of cross-striations.

J Bethlem, W F Arts, K P Dingemans.   

Abstract

Twelve patients suffering from congenital neuromuscular disorders showed at least two of the following structural changes in their muscle biopsy specimens: rods, cores, miniature cores (M lesions), and focal loss of cross-strians (F lesions). There appeared to be no essential differences between M and F lesions except for the presence of vesicular nuclei in and around the latter. A striking finding was the presence of adjacent M lesions, F lesions, or both in two or several adjoining muscle fibers. Serial sections often showed a definite relationship of the lesions with blood vessels. The finding of rods cores, and M and F lesions, not only in one biopsy specimen but also in one muscle fiber, raised the intriguing possibility of common pathogenic mechanisms producing these lesions.

Entities:  

Mesh:

Year:  1978        PMID: 687182     DOI: 10.1001/archneur.1978.00500330003002

Source DB:  PubMed          Journal:  Arch Neurol        ISSN: 0003-9942


  19 in total

Review 1.  Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

Authors:  K N North; N G Laing; C Wallgren-Pettersson
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2.  Central core disease.

Authors:  Sheffali Gulati; Amandeep Salhotra; M C Sharma; Chitra Sarkar; Veena Kalra
Journal:  Indian J Pediatr       Date:  2004-11       Impact factor: 1.967

3.  Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.

Authors:  Sylvie Ducreux; Francesco Zorzato; Ana Ferreiro; Heinz Jungbluth; Francesco Muntoni; Nicole Monnier; Clemens R Müller; Susan Treves
Journal:  Biochem J       Date:  2006-04-15       Impact factor: 3.857

4.  Clinical utility gene card for: Nemaline myopathy - update 2015.

Authors:  Kristen J Nowak; Mark R Davis; Carina Wallgren-Pettersson; Phillipa J Lamont; Nigel G Laing
Journal:  Eur J Hum Genet       Date:  2015-02-25       Impact factor: 4.246

5.  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

6.  Hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle.

Authors:  H Furuoka; T Doi; N Nakamura; I Inada; S Osame; T Matsui
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

Review 7.  Congenital myopathies.

Authors:  Claudio Bruno; Carlo Minetti
Journal:  Curr Neurol Neurosci Rep       Date:  2004-01       Impact factor: 5.081

8.  Experimental emetine myopathy: enzyme histochemical, electron microscopic, and immunomorphological studies.

Authors:  N J Hopf; H H Goebel
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

9.  Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Authors:  Elena Zvaritch; Natasha Kraeva; Eric Bombardier; Robert A McCloy; Frederic Depreux; Douglas Holmyard; Alexander Kraev; Christine E Seidman; J G Seidman; A Russell Tupling; David H MacLennan
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-03       Impact factor: 11.205

10.  Autosomal dominant multicore disease.

Authors:  J A Vanneste; F C Stam
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-04       Impact factor: 10.154

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