Charcot-Marie-Tooth disease type 2 subtype K(English)

• caused by dominantly inherited mutations in the GDAP1 gene, as opposed to recessively inherited mutations in the same gene in the case of CMT4A. About 25 % of people with mutations in the GDAP1 gene have CMT2K. GDAP1 encodes for a protein called ganglioside-induced differentiation-associated protein 1 found in mitochondria. The onset of symptoms varies, with about 25 % of people having symptoms before the age of 10, 41 % having them between ages 10 and 30, 20 % having them over age 30, and 14 % being asymptomatic until after age 50. Less than 10 % of people with CMT2K need a wheelchair full-time
• CMT2
• Congenital disorders, Mitochondrion, Musculoskeletal system
• https://charcot…th-type-2-cmt2/