Research advances in limb-girdle muscular dystrophy type 2Q
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    Abstract:

    Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies with predominantly proximal muscular weakness, and some genes associated with this disease have been identified at present. LGMD type 2Q (LGMD2Q) is a subtype of LGMD and is associated with PLEC gene mutation. Major phenotypes of PLEC gene mutation include epidermolysis bullosa with late-onset muscular dystrophy and epidermolysis bullosa with other lesions. LGMD2Q without skin lesions is rarely reported. This article reviews the pathogenic gene PLEC and clinical manifestations of LGMD2Q, so as to deepen the understanding of the pathogenic gene and phenotype of LGMD2Q.

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张敏, 蓝丹.2Q型肢带型肌营养不良症的研究进展[J].中国当代儿科杂志英文版,2019,21(8):839-844

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History
  • Received:April 15,2019
  • Revised:July 07,2019
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  • Online: August 25,2019
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