A group Korean doctors have identified a new hereditary disease, which has been acknowledged by international academia.
Dr. Choi Byoung-ok of Ewha Womans University and others on Wednesday said that the rare breed of a hereditary illness they found for the first time in the world in 2011 was named “Peripheral Neuropathy, Myopathy, Hoarseness and Hearing Loss” by the U.S. National Institute of Health earlier this month. The disease was registered as serial number 614368 with the Online Mendelian Inheritance in Man managed by the NIH, meaning that the illness has been officially acknowledged as a new disease, the researchers said.
PNMHH is a birth defect that accompanies disorders in the peripheral nerves and muscles, especially in the legs. It causes difficulties in walking and disfiguration in the development of the feet. Hearing loss is also detected.
Choi and his group identified the disorder-causing gene, “MYH14,” in the 19th chromosome.
The finding was released in Human Mutation’s June 2011 edition.
(baejisook@heraldcorp.com)
