Previously unknown mutation found in Russians

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 Previously unknown mutation found in Russians

Specialists at the Genotek Medical Genetics Center, in collaboration with several research institutes, have identified the genetic cause of a hereditary pathology known as Charcot-Marie-Tooth disease. Izvestia writes about this with reference to the company's press service.

Two patients were diagnosed with – 6 year old boy and his father. It was found that the cause was a previously unknown mutation in the MPZ gene.
As a result, due to the disruption of this gene, the child stumbled while walking, could not run and jump. His father had similar problems.

Charcot-Marie-Tooth disease is a hereditary disease in which the muscles of the lower leg become weak and shrink (atrophy). This disease affects the nerves that control muscle movement and carry sensitive information to the brain.

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