Abstract
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2) is a heterogeneous group of disorders with seven chromosomal loci mapped in the uncomplicated forms of CMT2. The authors report clinical, electrophysiologic, and genetic analysis of a Polish CMT2 family. Nine known CMT2 gene loci and one MPZ gene locus have been excluded. The authors' findings suggest that this family represents a novel form of CMT2 disease.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Action Potentials
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Adolescent
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Age of Onset
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Axons / pathology
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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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Child
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DNA Mutational Analysis
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Disease Progression
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Female
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Genes, Dominant
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Genetic Heterogeneity*
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Genetic Linkage
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Humans
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Male
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Neural Conduction
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Pedigree
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Phenotype
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Poland / epidemiology
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Reaction Time