Abstract
Recent work has identified the genes and mutational mechanisms that underlie several inherited diseases of the peripheral nervous system and has provided both the first genetic rationale for classification of these disorders and an insight into their biological basis. These studies have yielded some surprising findings, including the discovery that two very different mutational mechanisms (duplication and point mutation) can result in a similar clinical phenotype in Charcot-Marie-Tooth disease type 1A, and that mutations involving the same gene can give rise to different clinical phenotypes.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Amino Acid Sequence
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Animals
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Charcot-Marie-Tooth Disease / classification
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Charcot-Marie-Tooth Disease / epidemiology
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Charcot-Marie-Tooth Disease / genetics*
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Disease Models, Animal
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Gene Expression Regulation
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Humans
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Mice
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Mice, Neurologic Mutants / genetics
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Models, Genetic*
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Molecular Sequence Data
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Multigene Family*
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Myelin P0 Protein
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Myelin Proteins / chemistry
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Myelin Proteins / genetics*
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Phenotype
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Prevalence
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Protein Conformation
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Rats
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X Chromosome
Substances
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Myelin P0 Protein
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Myelin Proteins
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PMP22 protein, human
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Pmp22 protein, mouse
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Pmp22 protein, rat