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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 7 - 11 (5page)
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초록· 키워드
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Limb–girdle muscular dystrophy (LGMD) is a hereditary myopathy characterized by weakness and wasting of pelvic girdle musculature. Herein, we report the case of a 51-year-old man with an unremarkable past medical history who presented with insidious onset of weakness in his back and proximal lower extremities. Clinical findings and electrodiagnostic tests were consistent with myopathy. Exome sequencing detected a mutation in calpain-3 (CAPN3), which confirmed the diagnosis of LGMD 2A. Through a review of less typical case of LGMD 2A, we confirmed that the severity and onset of symptoms may vary according to the quantity of CAPN3 expressed in patients with mutations in CAPN3.
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