터너 증후군 여아에서 발생한 뒤시엔느형 근 디스트로피-증례 보고-
Duchenne Muscular Dystrophy in a Girl with Turner Syndrome-A case report-
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Abstract
Duchenne Muscular Dystrophy (DMD) is an X-linked, recessive disorder characterized by progressive muscular weakness, Gower sign, waddling gait and pseudohypertrophy of the calf muscles. Little is reported about DMD manifestations in females because of its' X-linked, recessive inheritance. The authors described a 12-year-old female with gait disturbance. Her symptoms were diminished muscle power, decreased deep tendon reflexes, Gower sign andpseudohypertrophy of calf muscle. Serum creatinine kinase level was elevated to 1,674 U/ml. Electromyographic findings were compatible with myopathy. Histopathologic examination of the muscles confirmed the diagnosis of DMD. The result of karyotyping was 45X, but multiplex PCR (Polymerase Chain Reaction) analysis showed normal findings.
참고문헌 (9)
- "한국인 뒤시엔느형 및 베커형 근 디스트로피의 유전자 결손분석", 20, pp.583~597 (1996)
- "Detection of 98% of DMD", BMD gene deletions by polymerase chain reaction, 1990, pp.86, 45~48
- "Clinical trial in Duchenne dystrophy The design of the protocol"
- "In evaluation and treatment of myopathies", pp.93~153 (1995)
- "Dystrophin:the protein product of the Duchenne muscular dystrophy locus", 51, pp.919~928 (1987)
- "Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands", pp.2116~2119 (1999), Hoogerwaard EM
- "Report of four women with Duchenne and Becker muscular dystrophy in girls", pp.464~467 (2004)
- "Polymerase chain reaction:current and future clinical applications", 27, pp.2~7 (1990)
- "Turner's syndrome", 351, pp.1227~1238 (2004)