| Spinal Muscular Atrophy Type 2 in Siblings. |
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Jeong Sam Jeon, Dong Hub Lee, Byung Soo Cho, Sa Jun Chung, Chang Il Ahn |
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Department of Pediatrics, College Medicine, Kyung Hee University, Seoul, Korea |
| 남매에서 발생한 제 2 형 척추성 근위축증 2례 |
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전정삼, 이동협, 조병수, 정사준, 안창일 |
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경희대학교 의과대학 소아과학교실 |
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Received: 12 July 1988 • Accepted: 5 November 1988 |
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| Abstract |
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We experienced two cases of spinal muscular atrophy, type 2 in 1 year 11 months old boy and 4 year
1 month old girl with the complaint of progressive muscular weakness on both lower extremities (frog
leg position).
Their development had been almost normal since birth and they could stand alone briefly at 12
months of age, but progressive muscular weakness had been apparent since then.
Dignosis was based on clinical pictures, EMG, muscle biopsy.
A review of literatures was also attempted briefly. |
| Key Words:
Spinal muscular atrophy type 2, Floppy infant |
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