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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 89 - 92 (4page)
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초록· 키워드
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Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.
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등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Camacho Vanegas O / 2001 / Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI / Proc Natl Acad Sci U S A 98:7516~7521
Bonnemann CG / 2011 / The collagen VI-related myopathies: muscle meets its matrix / Nat Rev Neurol 7:379~390
Brinas L / 2010 / Early onset collagen VI myopathies: genetic and clinical correlations / Ann Neurol 68:511~520
Yonekawa T / 2015 / Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism( s) / J Neurol Neurosurg Psychiatry 86:280~287
Yonekawa T / 2013 / Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy / J Neurol Neurosurg Psychiatry 84:982~988
Bonnemann CG / 2011 / The collagen VI-related myopathies: muscle meets its matrix / Nat Rev Neurol 7:379~390
Brinas L / 2010 / Early onset collagen VI myopathies: genetic and clinical correlations / Ann Neurol 68:511~520
Yonekawa T / 2015 / Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism( s) / J Neurol Neurosurg Psychiatry 86:280~287
Yonekawa T / 2013 / Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy / J Neurol Neurosurg Psychiatry 84:982~988
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