A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy |
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| Authors: | Kim Hyun Y Ki Chang-Seok Kang Seok-Jae Khang Shin K Koh Seong-Ho Kim Dong-Won Kim Seung H Sung Il-Hoon |
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| Affiliation: | Department of Neurology, College of Medicine, Hanyang University, 17 Haengdang-dong, Seongdong-gu, Seoul 133-792, South Korea. |
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| Abstract: | We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family with Emery-Dreifuss muscular dystrophy and a novel mutation (Leu162Pro) in the LMNA gene. Within this single family, the age of onset and disease severity varied among the family members. In addition, focal defects of nuclear membranes with chromatin blebs in endothelial cells was shown via electron microscopy. |
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| Keywords: | autosomal dominant Emery–Dreifuss muscular dystrophy Leu162Pro LMNA gene mutation |
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