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Neurology. 2004 Oct 26;63(8):1527-9.

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

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  • 1INSERM U289, Hôpital Pitié-Salpêtrière, 47 Bd de l'hôpital, 75651, Paris Cedex 13, France.


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.

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