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KMID : 1044320200220010029
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Annals of Clinical Neurophysiology
2020 Volume.22 No. 1 p.29 ~ p.32
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LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant
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La Yun-Kyung
Oh Eun-Kyoung
Lyou Hyun-Ji
Hong Ji-Man
Choi Young-Chul
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Abstract
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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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KEYWORD
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High-throughput nucleotide sequencing, Sarcoglycanopathies, SGCB
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FullTexts / Linksout information
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Listed journal information
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