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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age of Onset
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Amino Acid Substitution / genetics
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Chromatin / pathology
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Chromosome Disorders / diagnosis
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Chromosome Disorders / genetics
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Chromosome Disorders / physiopathology
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DNA Mutational Analysis
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Endothelial Cells / metabolism
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Endothelial Cells / pathology
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Female
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Genes, Recessive / genetics*
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Genetic Markers
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Genetic Predisposition to Disease / genetics*
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Humans
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Lamin Type A / genetics*
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Leucine / genetics
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Male
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Dystrophy, Emery-Dreifuss / diagnosis*
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Muscular Dystrophy, Emery-Dreifuss / genetics*
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Muscular Dystrophy, Emery-Dreifuss / physiopathology
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Nuclear Envelope / metabolism
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Nuclear Envelope / pathology
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Pedigree
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Point Mutation / genetics*
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Proline / genetics
Substances
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Chromatin
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Genetic Markers
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LMNA protein, human
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Lamin Type A
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Proline
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Leucine