No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Charcot-Marie-Tooth Disease / genetics*
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Charcot-Marie-Tooth Disease / physiopathology
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Female
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Humans
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Muscular Dystrophy, Emery-Dreifuss / genetics*
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Muscular Dystrophy, Emery-Dreifuss / physiopathology
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Mutation
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Syndrome
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TRPV Cation Channels / genetics*
Substances
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TRPV Cation Channels
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TRPV4 protein, human
Supplementary concepts
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Charcot-Marie-Tooth disease, Type 2C
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Scapuloperoneal myopathy