Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy

Retraction in: /10.3892/mmr.2016.5267

  • Authors:
    • Xinhong Liu
    • Huamin Wu
    • Jian Gong
    • Tao Wang
    • Chuanzhu Yan
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  • Published online on: March 28, 2016     https://doi.org/10.3892/mmr.2016.5047
  • Pages: 4273-4278
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Abstract

The aim of the present study was to report on a family with pathologically and genetically diagnosed autosomal dominant inherited centronuclear myopathy (CNM). In addition, this study aimed to investigate the clinical, pathological and molecular genetic characteristics of the disease. This pedigree was traced back three generations, four patients underwent neurological examination, two patients underwent muscle biopsy, and eight family members were subjected to dynamin 2 (DNM2) gene mutation analysis. DNM2 mutations were detected in seven family members, of which four patients exhibited DNM2 mutation‑specific clinical and pathological features. Lower extremity weakness was the predominant symptom of these patients, however, proximal and distal lower extremity involvement was inconsistent. All patients exhibited marked systematic muscle atrophy and various degrees of facial muscle involvement. The patients presented the typical pathological changes of CNM, and their muscle tissues were heavily replaced by adipose tissue, with clustered distribution of muscle fibers as another notable feature. DNM2‑CNM patients of this pedigree exhibited heterogeneous clinical and pathological features, providing a basis for further molecular genetic analysis.
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May-2016
Volume 13 Issue 5

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Liu X, Wu H, Gong J, Wang T and Yan C: Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy Retraction in /10.3892/mmr.2016.5267. Mol Med Rep 13: 4273-4278, 2016
APA
Liu, X., Wu, H., Gong, J., Wang, T., & Yan, C. (2016). Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy Retraction in /10.3892/mmr.2016.5267. Molecular Medicine Reports, 13, 4273-4278. https://doi.org/10.3892/mmr.2016.5047
MLA
Liu, X., Wu, H., Gong, J., Wang, T., Yan, C."Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy Retraction in /10.3892/mmr.2016.5267". Molecular Medicine Reports 13.5 (2016): 4273-4278.
Chicago
Liu, X., Wu, H., Gong, J., Wang, T., Yan, C."Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy Retraction in /10.3892/mmr.2016.5267". Molecular Medicine Reports 13, no. 5 (2016): 4273-4278. https://doi.org/10.3892/mmr.2016.5047