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J Korean Neurol Assoc. 1990;8(1):154-158.
- Familial Spinal Muscular Atrophy wigh Autosomal Dominant ?Inheritance
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Yeon Mi Hwang,M.D., In Cheol Lee,M.D.
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Department of Neurology and pathology, University of Ulsan, Asan Medical Center
- 상염색체 우성으로 유전된 척수근위축증 한 가족예
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황연미, 이인철
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울산대학교 신경과, 해부병리학. 서울중앙병원 신경과, 해부병리학.
- Abstract
- Familial occurrence of spinal muscular atrophy(SMA) is not ?infrequent. Various modes of inheritance
of the SMA have been reported and autosomal recessive inheritance? appears the most frequent mode of
transmission. A small number of observations indicate autosomal ?dominant inheritance with either
complete or incomplete penetrance. To date, autosomal dominant ?SMA with complete penetrance in
more than 4 generations has been reported very rarely.
It is the Purpose of this report to decribe a family with ?familial SMA presenting as an autosomal
dominant trait with occurrence in 4 subsequent generations. This ?may be the first report in Korea.
Keywords :
- 초록
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