• Title/Summary/Keyword: Sarcoglycanopathies

Search Result 1, Processing Time 0.015 seconds

LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant

  • La, Yun Kyung;Oh, Eun Kyoung;Lyou, Hyun Ji;Hong, Ji Man;Choi, Young-Chul
    • Annals of Clinical Neurophysiology
    • /
    • v.22 no.1
    • /
    • pp.29-32
    • /
    • 2020
  • 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.