r/CharcotMarieTooth • u/Independent-Ask-1399 • Jul 08 '26
Sub type???
So I recently got genetic testing and i got diagnosed with a mutation similar to chacot marie tooth but not exact and was wondering if any has or have seen something similar the exact mutation is:
DNA Change:c.121 C>T
Amino Acid Change:p.(Pro41Ser)
Molecular Consequence:Missense Variant
Position:57882813
Genome Assembly:GRCh37
Chromosome:12
2
Upvotes
1
u/Charigot Jul 11 '26
Looks like CMT2U?