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A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa

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References

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Authors and Affiliations

  1. Department of Neurology, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China

    Ying Li & Liqun Feng

  2. Department of Neurology, The Second Affiliated Hospital of Nanchang University, Nanchang, 330006, Jiangxi Province, China

    Xueliang Qi

  3. Department of Neurology, Peking University First Hospital, Xishiku St 8#, Beijing, 100034, China

    Wei Zhang & Yun Yuan

Authors
  1. Ying Li
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  2. Xueliang Qi
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  3. Wei Zhang
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  4. Liqun Feng
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  5. Yun Yuan
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Correspondence to Yun Yuan.

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Li, Y., Qi, X., Zhang, W. et al. A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa. Neurol Sci 42, 1623–1625 (2021). https://doi.org/10.1007/s10072-020-04883-8

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  • DOI: https://doi.org/10.1007/s10072-020-04883-8

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