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
- 2011.1
- 수록면
- 192 - 195 (4page)
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초록· 키워드
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Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent. We investigated the clinical features of 3 female patients with dystrophinopathy diagnosed by clinical, pathological, and genetic studies at our neuromuscular disease clinic. The onset age of manifesting symptoms varied (8-28 years). Muscle weakness grade varied as follows: patient 1 showed asymmetrical bilateral proximal upper and lower extremities weakness, patient 2 showed asymmetrical bilateral upper extremities weakness similar to scapulohumoral muscular dystrophy, and patient 3 had only bilateral asymmetric proximal lower extremities weakness. Two patients had familial histories of DMD (their sons were diagnosed with DMD), but the 1 remaining patient had no familial history of DMD. The serum creatine kinase level was elevated in all patients, but it was not correlated with muscular weakness. An electromyography study showed findings of myopathy in all patients. One patient was diagnosed with a DMD carrier by a muscle biopsy with an immunohistochemical stain (dystrophin). The remaining 2 patients with familial history of DMD were diagnosed by multiplex ligation-dependent probe amplification (MLPA). There were inconsistent clinical features in the female carriers.
An immunohistochemical analysis of dystrophin could be useful for female carrier patients. Also, multiplex ligation-dependent probe amplification is essential for the diagnosis of a manifesting female carrier DMD in female myopathic patients because conventional multiplex PCR could not detect the duplication and is less accurate compared to MLPA.
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참고문헌 (14)
참고문헌 신청
Arahata K / 1989 / Mosaic expression of dystrophin in symptomatic carriers of Duchenne’s muscular dystrophy / N Engl J Med 320 : 138 ~ 142
Beggs AH / 1990 / Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction / Hum Genet 86 : 45 ~ 48
Ceulemans BP / 2008 / Muscle pain as the only presenting symptom in a girl with dystrophinopathy / Pediatr Neurol 38 : 64 ~ 66
Chamberlain JS / 1988 / Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification / Nucleic Acids Res 16 : 11141 ~ 11156
Griggs RC / 1985 / Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection / Muscle Nerve 8 : 60 ~ 67
Beggs AH / 1990 / Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction / Hum Genet 86 : 45 ~ 48
Ceulemans BP / 2008 / Muscle pain as the only presenting symptom in a girl with dystrophinopathy / Pediatr Neurol 38 : 64 ~ 66
Chamberlain JS / 1988 / Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification / Nucleic Acids Res 16 : 11141 ~ 11156
Griggs RC / 1985 / Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection / Muscle Nerve 8 : 60 ~ 67
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