Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant

  • La, Yun Kyung (Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Oh, Eun Kyoung (Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Lyou, Hyun Ji (Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Hong, Ji Man (Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Choi, Young-Chul (Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine)
  • Received : 2019.10.10
  • Accepted : 2019.11.29
  • Published : 2020.04.30
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Abstract

Sarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing. High-throughput nucleotide sequencing was performed in patients with slowly progressive proximal muscle weakness from early childhood with respiratory involvement, which detected a novel homozygous nonsense variant (c.601C>T;p.Gln201Ter) in SGCB. This report informs about the clinical characteristics of LGMD2E (type-2E LGMD) in Korea and provides genetic confirmation of the disease.

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References

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