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A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant Emery-Dreifuss muscular dystrophy
- 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
- Issue Date
- Oct-2008
- Publisher
- John Wiley & Sons Inc.
- Keywords
- autosomal dominant; Emery-Dreifuss muscular dystrophy; Leu162Pro; LMNA gene; mutation
- Citation
- Muscle and Nerve, v.38, no.4, pp 1336 - 1339
- Pages
- 4
- Indexed
- SCIE
SCOPUS
- Journal Title
- Muscle and Nerve
- Volume
- 38
- Number
- 4
- Start Page
- 1336
- End Page
- 1339
- ISSN
- 0148-639X
1097-4598
- 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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Related Researcher
- Kim, Hyun Young
- 서울 의과대학 (DEPARTMENT OF NEUROLOGY)