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
- 2015.1
- 수록면
- 50 - 54 (5page)
이용수
초록· 키워드
오류제보하기
Facioscapulohumeral muscular dystrophy (FSHD) is relevant with repeated contractions in the D4Z4 gene locus on chromosome 4q35. A 14-year-old girl presented asymmetric shoulder-girdle weakness and symmetric bilateral foot drop. We diagnosed her as FSHD using Southern blot analysis, which revealed 14kb EcoRI fragment and 4 repeated D4Z4. Whole body MRI revealed both asymmetric atrophies in trapezius and serratus anterior muscles, and symmetric atrophies in tibialis anterior muscles. We suggest that those findings might expand the clinical spectrum of FSHD.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Flanigan KM / 2001 / Genetic characterization of a large, historically signif icant Utah kindred with facioscapulohumeral dystrophy / Neuromuscul Disord 11 : 525 ~ 529
Friedman SD / 2012 / The magnetic resonance imagind spectrum of facioscapulohumeral muscular dystrophy / Muscle Nerve 45 : 500 ~ 506
Kan HE / 2009 / Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy / Neuromuscul Disord 19 : 357 ~ 362
Lunt PW / 1995 / Correlation between fragment size at D4F10S1 and age of onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variat
Olsen DB / 2006 / Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI / J Neurol 253 : 1437 ~ 1441
Friedman SD / 2012 / The magnetic resonance imagind spectrum of facioscapulohumeral muscular dystrophy / Muscle Nerve 45 : 500 ~ 506
Kan HE / 2009 / Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy / Neuromuscul Disord 19 : 357 ~ 362
Lunt PW / 1995 / Correlation between fragment size at D4F10S1 and age of onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variat
Olsen DB / 2006 / Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI / J Neurol 253 : 1437 ~ 1441
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