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
- 2006.1
- 수록면
- 513 - 518 (6page)
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초록· 키워드
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Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy. CFTD is characterized by non-progressive childhood neuromuscular disorders with a relatively good prognosis and type 1 fiber predominance and smallness. Congenital myopathy with type 1 fiber predominance (CMT1P) is also a distinct entity of congenital myopathy characterized by non-progressive childhood neuromuscular disorders and type 1 fiber predominance without smallness. Little is known about CMT1P. Clinical characteristics, including dysmorphic features such as hip dislocation, kyphoscoliosis, contracture, and high arch palate, were analyzed along with laboratory and muscle pathologies in six patients with CMT1P and three patients with CFTD. The clinical manifestations of CFTD and CMT1P were similar. However, the frequency of dysmorphic features is less in CMT1P than in CFTD. Long term observational studies of CMT1P are needed to determine if it will change to another form of congenital myopathy or if CMT1P is a distinct clinical entity.
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등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
/ / A histological diagnosis with an uncertain clinical outlook : 735 ~ 43
/ / A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers : 666 ~ 81
/ / Nonprogressive congenital neuromuscular disease with uniform type 1 fiber da (n mj) : 147 ~ 50
/ 1973 / Clinical studies in myology : 147 ~ 59
/ 1977 / Central core disease and focal loss of cross- striation Scientific approaches to clinical neurology : 1555 ~ 71
/ / A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers : 666 ~ 81
/ / Nonprogressive congenital neuromuscular disease with uniform type 1 fiber da (n mj) : 147 ~ 50
/ 1973 / Clinical studies in myology : 147 ~ 59
/ 1977 / Central core disease and focal loss of cross- striation Scientific approaches to clinical neurology : 1555 ~ 71
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