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Year : 2011  |  Volume : 59  |  Issue : 6  |  Page : 797--802

Duchenne or Becker muscular dystrophy: A clinical, genetic and immunohistochemical study in China

1 Department of Medicine, Senior Profession College; Department of Medical Genetics, China Medical University, Shenyang, China
2 Cell Treatment Center, The Four Six Three Hospital of Liberation Army, Shenyang, China
3 Department of Medical Genetics, China Medical University, Shenyang, China

Correspondence Address:
Chunlian Jin
Department of Medical Genetics, China Medical University, Shenyang-110001
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Source of Support: Doctoral Program Foundation of Liaoning Province (20111101), Conflict of Interest: None

DOI: 10.4103/0028-3886.91354

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Background and Objective: Duchenne and Becker muscular dystrophies are X-linked diseases caused by mutations in the dystrophin gene, which affect approximately 1 in 3,500 and 1 in 18,000 boys, respectively. The aim of this work was to develop a method to assist the diagnosis and classification of the disease. Materials and Methods: A large data set of dystrophin mutations was detected in 167 Chinese patients by multiplex ligation-dependent probe amplification and sequencing. Muscle biopsy, immunohistochemistry and STR analysis were also carried out in the patients and carriers. Results: One hundred and three deletions, 23 duplications and two-point mutations. The deletion of one or more exons was detected in 103 (61.7%) patients. The region spanning exons 44-55 was the most frequent deletion. The duplication was identified in 23 (13.8%) patients, which was more common than previously reported. Most duplications were found in exons 2-18. Six out of the 45 muscle biopsies analyzed showed the presence of other muscle diseases. Conclusions: This study may be important to enable comparisons of mutation type and the most appropriate analytical approach for samples from different geographical areas and ethnicities.


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Online since 20th March '04
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