지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2004.1
- 수록면
- 288 - 291 (4page)
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초록· 키워드
오류제보하기
Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles was an autosomal recessive muscle disease with preferential involvement of the tibialis anterior and sparing quadriceps muscles in young adulthood. Patients with NM usually showed slightly elevated serum creatine kinase (CK) levels and characteristic rimmed vacuoles in muscle biopsy. Recently, the UDP-N-acetylglucosamine-2-epimerase/N-ace- tylmannosamine kinase (GNE) gene was identified as the
identified as the causative gene for NM. Here we reported a NM patient carrying homozygous mutations (V572L) of the GNE gene. To the best of our knowledge, this was the first report of genetically confirmed NM in Korea and NM should be included in the differential diagnosis of slowly progressive weakness of distal legs.
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등록된 정보가 없습니다.
참고문헌 (11)
참고문헌 신청
/ / A unique disorder in Iranian Jews. J Neurol Sci 1984 : 33 ~ 43
/ / Distal myopathy with rimmed vacuole formation su (hara n) : 65 ~ 83
/ / Familial distal myopathy with rimmed vacuole and lamellar su (hara n) : 141 ~ 155
/ 1999 / distal myopathies. 12 : 493 ~ 499
/ 2000 / Distal myopathies 247 : 169 ~ 174
/ / Distal myopathy with rimmed vacuole formation su (hara n) : 65 ~ 83
/ / Familial distal myopathy with rimmed vacuole and lamellar su (hara n) : 141 ~ 155
/ 1999 / distal myopathies. 12 : 493 ~ 499
/ 2000 / Distal myopathies 247 : 169 ~ 174
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