Severe form of recessive Charcot-Marie-Tooth disease with a novel mutation in myotubularin related protein 2

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Charcot-Marie-Tooth type 4 (CMT4) is a severe form of recessive neuropathy with genetic heterogeneity. To date 11 different genes are detected of this rare autosomal recessive disorder. One form of this disease is caused by a mutation of the myotubularin-related 2 (MTMR2) gene. It is characterized by severe early childhood-onset demyelinating sensorimotor polyneuropathy, deformation of extremities and speech impairment up to vocal cord paresis. In the following we report the clinical course and electrophysiological findings of three pediatric sibling cases with a novel mutation in MTMR2.

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