Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
case_report · Level V
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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.
Medical subject headings
- Charcot-Marie-Tooth Disease
- Chromosome Aberrations
- Chromosomes, Human, Pair 17
- Genetic Predisposition to Disease
- Inheritance Patterns
- Mutation