Coincidence of two genetic forms of CMT disease in a single family

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Abstract from Neurology. 2004 Oct 26;63(8):1527-1529.

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

single family.

Verny C, Ravise N, Leutenegger AL, Pouplard F, Dubourg O, Tardieu S,

Dubas F, Brice A, Genin E, Leguern E.

U289, Hopital Pitie-Salpetriere, 47 Bd de l'hopital, 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.