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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
Author(s) -
Kim Hyun Y.,
Ki ChangSeok,
Kang SeokJae,
Khang Shin K.,
Koh SeongHo,
Kim DongWon,
Kim Seung H.,
Sung IlHoon
Publication year - 2008
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21066
Subject(s) - lmna , muscular dystrophy , muscle biopsy , emerin , lamin , gene mutation , mutation , pathology , family history , medicine , biopsy , biology , genetics , gene , nuclear protein , transcription factor
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. Muscle Nerve 38: 1336–1339, 2008