Abstract
A novel desmin R355P mutation has been identified in a patient with familial cardiac and skeletal myopathy. Two types of desmin storage were observed in the skeletal muscles. The spheroid-like bodies dominated in type 2 fibres while extensive accumulation of granulofilamentous material was found in type 1 fibres and in cardiomyocytes. A novel missense mutation R355P in the rod domain located in the C-terminal part of the 2B subunit is the eighth missense mutation, which changes the original aminoacid into proline. Proline is known to disrupt the alpha-helix and distort a unique stutter sequence that is critically important for proper filament assembly.
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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Arginine / genetics*
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DNA Mutational Analysis
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Desmin / genetics*
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Desmin / metabolism
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Humans
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Immunohistochemistry / methods
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Intermediate Filament Proteins / metabolism
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Male
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Microscopy, Electron, Transmission / methods
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Muscle Weakness / genetics
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Muscle Weakness / physiopathology
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / ultrastructure
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Muscular Diseases / genetics*
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Muscular Diseases / metabolism
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Muscular Diseases / pathology
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Muscular Diseases / physiopathology
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Mutation*
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Myocardium / metabolism
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Myocardium / pathology
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Myocardium / ultrastructure
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Nerve Tissue Proteins / metabolism
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Proline / genetics*
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Protein Kinases / metabolism
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RNA, Messenger / biosynthesis
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Reverse Transcriptase Polymerase Chain Reaction / methods
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alpha-Crystallin B Chain
Substances
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CRYAB protein, human
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Desmin
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Intermediate Filament Proteins
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Nerve Tissue Proteins
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RNA, Messenger
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alpha-Crystallin B Chain
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Arginine
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Proline
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Protein Kinases