Literature DB >> 7158301

Coexistence of minicores, cores, and rods in the same muscle biopsy. A new example of mixed congenital myopathy.

J M Vallat, L de Lumley, A Loubet, M J Leboutet, N Corvisier, R Umdenstock.   

Abstract

The authors report on the ultrastructural study of a muscle biopsy carried out in a child 6 years after the first biopsy which had led to diagnosis of "multicore disease". Clinical evolution following a few years of muscular involvement had been favorable. The lesions observed in the second biopsy were again characterized by the presence of multicores, but in addition to cores and rods. All of these abnormalities could sometimes be noted in a single muscle fiber. Although rare cases of an association of two types of lesions have been reported, no study has hitherto shown multicores, cores, and rods in the same biopsy. This observation might confirm the possibility of common pathogenic mechanisms producing these lesions.

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Year:  1982        PMID: 7158301     DOI: 10.1007/bf00690806

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN: 0001-6322            Impact factor:   17.088


  11 in total

1.  CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY.

Authors:  A K AFIFI; J W SMITH; H ZELLWEGER
Journal:  Neurology       Date:  1965-04       Impact factor: 9.910

2.  [Clinical and ultrastructural study of a case of congenital myopathy with multiple foci].

Authors:  L de Lumley; J M Vallat; G Catanzano
Journal:  Ann Pediatr (Paris)       Date:  1976-11-02

3.  Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.

Authors:  H Isaacs; J J Heffron; M Badenhorst
Journal:  J Neurol Neurosurg Psychiatry       Date:  1975-12       Impact factor: 10.154

4.  Tenotomy. Effect on the fine structure of the soleus of the rat.

Authors:  S A Shafiq; M A Gorycki; S A Asiedu; A T Milhorat
Journal:  Arch Neurol       Date:  1969-06

5.  A new concept of childhood nemaline myopathy.

Authors:  G Karpati; S Carpenter; F Andermann
Journal:  Arch Neurol       Date:  1971-04

6.  Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers.

Authors:  A G Engel; M R Gomez; R V Groover
Journal:  Mayo Clin Proc       Date:  1971-10       Impact factor: 7.616

7.  Mixed nemaline-mitochondrial "myopathy".

Authors:  M Kornfeld
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

8.  Cytopathology of an unusual case of centronuclear myopathy. Light- and electron-microscopic investigations.

Authors:  N Hülsmann; F Gullotta; H Okur
Journal:  J Neurol Sci       Date:  1981-06       Impact factor: 3.181

9.  Adult-onset nemaline rods in a patient treated for suspected dermatomyositis. Study with two-dimensional electrophoresis.

Authors:  M J Danon; C S Giometti; J R Manaligod; O H Perurena; J L Skosey
Journal:  Arch Neurol       Date:  1981-12

10.  A fatal congenital myopathy with severe type I fibre atrophy, central nuclei and multicores.

Authors:  Y S Lee; W C Yip
Journal:  J Neurol Sci       Date:  1981-05       Impact factor: 3.181

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  10 in total

1.  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

Review 2.  Congenital myopathies.

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

3.  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

4.  Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis.

Authors:  R J Seitz; K V Toyka; W Wechsler
Journal:  J Neurol       Date:  1984       Impact factor: 4.849

5.  Pleocore disease. Multi-minicore disease and focal loss of cross striations.

Authors:  J J Martin; M Bruyland; H F Busch; J P Farriaux; I Krivosic; C Ceuterick
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

Review 6.  Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Authors:  Heinz Jungbluth; Susan Treves; Francesco Zorzato; Anna Sarkozy; Julien Ochala; Caroline Sewry; Rahul Phadke; Mathias Gautel; Francesco Muntoni
Journal:  Nat Rev Neurol       Date:  2018-02-02       Impact factor: 42.937

Review 7.  Central core disease.

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

Review 8.  Multi-minicore Disease.

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

9.  Coexistence of central nucleus, cores, and rods: Diagnostic relevance.

Authors:  Sathiyabama Dhinakaran; Rashmi Santhosh Kumar; Ravindra Thakkar; Gayathri Narayanappa
Journal:  Ann Indian Acad Neurol       Date:  2016 Apr-Jun       Impact factor: 1.383

10.  Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Authors:  Joshua J Todd; Muslima S Razaqyar; Jessica W Witherspoon; Tokunbor A Lawal; Ami Mankodi; Irene C Chrismer; Carolyn Allen; Mary D Meyer; Anna Kuo; Monique S Shelton; Kim Amburgey; Dmitriy Niyazov; Pierre Fequiere; Carsten G Bönnemann; James J Dowling; Katherine G Meilleur
Journal:  Front Neurol       Date:  2018-03-05       Impact factor: 4.003

  10 in total

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