Abstract
Charcot–Marie–Tooth disease (CMT) is a hereditary neuropathy attributed to mutations in more than 30 different genes. A recent study identified the causative mutation in 67% of 787 screened patients with CMT, and the findings raise important issues concerning genetic testing for CMT.
MeSH terms
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Axons / pathology
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Charcot-Marie-Tooth Disease / classification
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Charcot-Marie-Tooth Disease / diagnosis*
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Charcot-Marie-Tooth Disease / genetics*
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Demyelinating Diseases / genetics
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Demyelinating Diseases / pathology
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Humans
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Mutation / genetics
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Neurologic Examination
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Peripheral Nervous System Diseases / classification
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Peripheral Nervous System Diseases / diagnosis*
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Peripheral Nervous System Diseases / genetics*
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Phenotype