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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 29 - 32 (4page)
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초록· 키워드
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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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등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Ozawa E / 2005 / Molecular and cell biology of the sarcoglycan complex / Muscle Nerve 32:563~576
Moore SA / 2006 / Limb-girdle muscular dystrophy in the United States / J Neuropathol Exp Neurol 65:995~1003
Rosales XQ / 2012 / Childhood onset of limb-girdle muscular dystrophy / Pediatr Neurol 46:13~23
Park HJ / 2017 / Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders / Clin Genet 91:403~410
Semplicini C / 2015 / Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E / Neurology 84:1772~1781
Moore SA / 2006 / Limb-girdle muscular dystrophy in the United States / J Neuropathol Exp Neurol 65:995~1003
Rosales XQ / 2012 / Childhood onset of limb-girdle muscular dystrophy / Pediatr Neurol 46:13~23
Park HJ / 2017 / Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders / Clin Genet 91:403~410
Semplicini C / 2015 / Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E / Neurology 84:1772~1781
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