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Experimental and Therapeutic Medicine
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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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November 2013 Volume 6 Issue 5

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Case Report

Merosin-deficient congenital muscular dystrophy type 1A: A case report

  • Authors:
    • Zhanwen He
    • Xiangyang Luo
    • Liyang Liang
    • Pinggan Li
    • Dongfang Li
    • Meng Zhe
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, Sun Yat-sen Memorial Hospital of Sun Yat‑sen University, Guangzhou, Guangdong 510120, P.R. China
  • Pages: 1233-1236
    |
    Published online on: August 23, 2013
       https://doi.org/10.3892/etm.2013.1271
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Abstract

The aim of this study was to characterize the clinical and genetic features of a 4-year‑old female with merosin‑deficient congenital muscular dystrophy type 1A (MDC1A). MDC1A is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22-23. Clinical presentation, as well as the results of neuroimaging, electrophysiology and molecular genetic tests were used to evaluate a patient with MDC1A. The patient exhibited severe hypotonia and marked proximal weakness at 6 months of age, as well as delayed developmental milestones. The serum creatine kinase levels of the patient were elevated at 1,556 IU/l. Magnetic resonance imaging (MRI) showed that the white matter in the frontal, parietal, temporal and occipital lobes was abnormal with low signal intensities on T1-weighted images and high signal intensities on T2-weighted images; however, the cortex was normal. Sequencing of the 65 exons of the LAMA2 revealed a homozygous nonsense mutation in exon 50: a C>T exchange in nucleotide 7147 that resulted in a stop codon (Arg2383X stop). Molecular genetic testing is a reliable method for confirming a diagnosis of MDC1A. When a patient presents with severe congenital hypotonia, muscle weakness, high serum creatine kinase (CK) levels and white matter abnormalities, the evaluation may directly proceed to molecular genetic testing of the LAMA2 gene without performing a muscle biopsy.
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Copy and paste a formatted citation
Spandidos Publications style
He Z, Luo X, Liang L, Li P, Li D and Zhe M: Merosin-deficient congenital muscular dystrophy type 1A: A case report. Exp Ther Med 6: 1233-1236, 2013.
APA
He, Z., Luo, X., Liang, L., Li, P., Li, D., & Zhe, M. (2013). Merosin-deficient congenital muscular dystrophy type 1A: A case report. Experimental and Therapeutic Medicine, 6, 1233-1236. https://doi.org/10.3892/etm.2013.1271
MLA
He, Z., Luo, X., Liang, L., Li, P., Li, D., Zhe, M."Merosin-deficient congenital muscular dystrophy type 1A: A case report". Experimental and Therapeutic Medicine 6.5 (2013): 1233-1236.
Chicago
He, Z., Luo, X., Liang, L., Li, P., Li, D., Zhe, M."Merosin-deficient congenital muscular dystrophy type 1A: A case report". Experimental and Therapeutic Medicine 6, no. 5 (2013): 1233-1236. https://doi.org/10.3892/etm.2013.1271
Copy and paste a formatted citation
x
Spandidos Publications style
He Z, Luo X, Liang L, Li P, Li D and Zhe M: Merosin-deficient congenital muscular dystrophy type 1A: A case report. Exp Ther Med 6: 1233-1236, 2013.
APA
He, Z., Luo, X., Liang, L., Li, P., Li, D., & Zhe, M. (2013). Merosin-deficient congenital muscular dystrophy type 1A: A case report. Experimental and Therapeutic Medicine, 6, 1233-1236. https://doi.org/10.3892/etm.2013.1271
MLA
He, Z., Luo, X., Liang, L., Li, P., Li, D., Zhe, M."Merosin-deficient congenital muscular dystrophy type 1A: A case report". Experimental and Therapeutic Medicine 6.5 (2013): 1233-1236.
Chicago
He, Z., Luo, X., Liang, L., Li, P., Li, D., Zhe, M."Merosin-deficient congenital muscular dystrophy type 1A: A case report". Experimental and Therapeutic Medicine 6, no. 5 (2013): 1233-1236. https://doi.org/10.3892/etm.2013.1271
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