Ann Clin Neurophysiol.  2020 Apr;22(1):29-32. 10.14253/acn.2020.22.1.29.

LGMD2E with a novel nonsense variantin SGCB gene: a case of LGMD2E with anovel variant

Affiliations
  • 1Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea

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.

Keyword

High-throughput nucleotide sequencing; Sarcoglycanopathies; SGCB
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