Article
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
Muscle & nerve - 1 Oct 2008
Kim Hyun Y, Ki Chang-Seok, Kang Seok-Jae, Khang Shin K, Koh Seong-Ho, Kim Dong-Won, Kim Seung H, Sung Il-Hoon
Abstract excerpt
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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