Abstract
The authors report a family in which two affected first cousins had a severe demyelinating Charcot-Marie-Tooth disease (CMT) phenotype. One had related parents, and there were no other affected relatives, suggesting an autosomal recessive mode of inheritance. Molecular studies showed that a de novo duplication in 17p11.2 and a second mutation in MTMR2 were present.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Charcot-Marie-Tooth Disease / genetics*
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Chromosome Aberrations*
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Chromosomes, Human, Pair 17 / genetics*
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DNA Mutational Analysis
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Disease Progression
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Family Health
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Female
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Genes, Recessive / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Humans
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Inheritance Patterns / genetics*
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Male
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Muscle Weakness / genetics
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Muscle Weakness / pathology
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Muscle Weakness / physiopathology
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Mutation / genetics*
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Nerve Fibers, Myelinated / pathology
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Pedigree
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Peripheral Nerves / pathology
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Peripheral Nerves / physiopathology
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Protein Tyrosine Phosphatases / genetics
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Protein Tyrosine Phosphatases, Non-Receptor
Substances
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MTMR2 protein, human
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Protein Tyrosine Phosphatases
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Protein Tyrosine Phosphatases, Non-Receptor
Associated data
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OMIM/118220
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OMIM/214400
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OMIM/601382
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OMIM/601455
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OMIM/601596
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OMIM/604563
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OMIM/605725