Abstract
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Age of Onset
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Alleles
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Amino Acid Substitution
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Axons / chemistry
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Brain / metabolism
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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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Charcot-Marie-Tooth Disease / pathology
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Child
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Child, Preschool
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Chromosomes, Human, Pair 8 / genetics*
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Codon, Nonsense
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DNA Mutational Analysis
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Demyelinating Diseases
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Exons / genetics
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Female
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Frameshift Mutation
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Genes, Recessive
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Haplotypes / genetics
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Humans
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Infant
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Lod Score
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Male
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Molecular Sequence Data
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Mutation, Missense
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Nerve Tissue Proteins / deficiency
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Nerve Tissue Proteins / genetics*
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Nerve Tissue Proteins / physiology
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Neural Conduction
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Pedigree
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Polymerase Chain Reaction
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Spain / epidemiology
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Spinal Cord / metabolism
Substances
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Codon, Nonsense
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GDAP protein
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Nerve Tissue Proteins
Associated data
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GENBANK/Y17849
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OMIM/214400