Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1

  • Authors:
    • Qing Liu
    • Yu‑Fei Zheng
    • Yan‑Ping Zhu
    • Shi‑Qing Ling
    • Wei‑Rong Li
  • View Affiliations

  • Published online on: September 9, 2015     https://doi.org/10.3892/etm.2015.2738
  • Pages: 1931-1936
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Abstract

The aim of the present study was to investigate the clinical, pathological and molecular genetic characteristics of a pedigree with myotonic dystrophy type 1 (DM1). A series of clinical data from a pedigree with DM1 were collected. Muscle biopsy revealed a typical nuclear ingression within numerous muscle fibers following hematoxylin and eosin staining. Genomic DNA was extracted from the venous blood of two patients and the triplet‑primed polymerase chain reaction method was performed to amplify the dystrophia myotonic protein kinase (DMPK) gene. The amplified products were subjected to gene sequencing by capillary fluorescence electrophoresis, and a pathogenic mutation in the DMPK gene comprising >50 cytosine‑thymine‑guanine repeat sequences was found. DM1 includes multi‑system damage, as well as skeletal muscle involvement, and can affect the central nervous system, endocrine glands, skin and heart. A skeletal muscle biopsy and genetic testing can confirm the diagnosis and clarify the severity of the disease. In addition, it is necessary to distinguish DM1 from DM2.
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November-2015
Volume 10 Issue 5

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Liu Q, Zheng YF, Zhu YP, Ling SQ and Li WR: Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1. Exp Ther Med 10: 1931-1936, 2015.
APA
Liu, Q., Zheng, Y., Zhu, Y., Ling, S., & Li, W. (2015). Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1. Experimental and Therapeutic Medicine, 10, 1931-1936. https://doi.org/10.3892/etm.2015.2738
MLA
Liu, Q., Zheng, Y., Zhu, Y., Ling, S., Li, W."Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1". Experimental and Therapeutic Medicine 10.5 (2015): 1931-1936.
Chicago
Liu, Q., Zheng, Y., Zhu, Y., Ling, S., Li, W."Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1". Experimental and Therapeutic Medicine 10, no. 5 (2015): 1931-1936. https://doi.org/10.3892/etm.2015.2738