Literature DB >> 131874

[Congenital centronuclear myopathy. Two morphological variants in one family (author's transl)].

D Pongratz, A Weindl, W Reichl, C Koppenwallner, M Heuser, G Hübner.   

Abstract

This report deals with a family in which the mother and her two daughters suffer from a congenital, slowly progressive neuromuscular disease. Histological, histochemical and ultrastructural observations of the mother's muscle biopsy reveal the characteristics of the centronuclear myopathy. In this case central nuclei and pericentronuclear abnormalities of muscle fibers are found in almost all fibers. Biopsies obtained of the two daughters show alterations especially of type I-fibers, which often are smaller than normal. The presence of these two forms of centronuclear myopathy in one family indicates that these may be only different morphological types of states of one illness. Additionally, other structural findings (rod bodies, core like regions) emphasize the similarities with other congenital slowly progressive myopathies (nemaline myopathy, central core disease).

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Year:  1976        PMID: 131874     DOI: 10.1007/bf01470928

Source DB:  PubMed          Journal:  Klin Wochenschr        ISSN: 0023-2173


  10 in total

1.  The specificity of the histochemical method for adenosine triphosphatase.

Authors:  H A PADYKULA; E HERMAN
Journal:  J Histochem Cytochem       Date:  1955-05       Impact factor: 2.479

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Authors:  T VON HIRSCH; J W BOELLAARD
Journal:  Z Wiss Mikrosk       Date:  1958-11

3.  Familial centronuclear myopathy: a clinical and pathological study.

Authors:  J H Sher; A B Rimalovski; T J Athanassiades; S M Aronson
Journal:  Neurology       Date:  1967-08       Impact factor: 9.910

4.  Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model.

Authors:  W K Engel; G N Gold; G Karpati
Journal:  Arch Neurol       Date:  1968-04

5.  Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease.

Authors:  G Karpati; S Carpenter; R F Nelson
Journal:  J Neurol Sci       Date:  1970-05       Impact factor: 3.181

6.  Myotubular myopathy. Persistence of fetal muscle in an adolescent boy.

Authors:  A J Spiro; G M Shy; N K Gonatas
Journal:  Arch Neurol       Date:  1966-01

7.  Familial "myotubular" myopathy.

Authors:  G K van Wijngaarden; P Fleury; J Bethlem; A E Meijer
Journal:  Neurology       Date:  1969-09       Impact factor: 9.910

8.  Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures.

Authors:  J Bethlem; G K van Wijngaarden; A E Meijer; W C Hülsmann
Journal:  Neurology       Date:  1969-07       Impact factor: 9.910

9.  Myotubular, centronuclear or Peri-Centronuclear myopathy?

Authors:  M J Campbell; J J Rebeiz; J N Walton
Journal:  J Neurol Sci       Date:  1969 May-Jun       Impact factor: 3.181

10.  A histochemical method for the demonstration of diphosphopyridine nucleotide diaphorase.

Authors:  M M NACHLAS; D G WALKER; A M SELIGMAN
Journal:  J Biophys Biochem Cytol       Date:  1958-01-25
  10 in total
  2 in total

1.  Patterns of neuromuscular disease. As related to stages of normal embryogenesis in voluntary muscle.

Authors:  A Korényi-Both; G Marosán
Journal:  Am J Pathol       Date:  1979-05       Impact factor: 4.307

2.  Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.

Authors:  Yu Xia; Yijie Feng; Lu Xu; Xiaoyang Chen; Feng Gao; Shanshan Mao
Journal:  Front Genet       Date:  2021-03-10       Impact factor: 4.599

  2 in total

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