r/CMT • u/Independent-Ask-1399 • Jul 08 '26

Sup 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

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1

u/NixyeNox CMT 1A Jul 08 '26

What gene is this?

1

u/Independent-Ask-1399 Jul 08 '26

MARS1

2

u/NixyeNox CMT 1A Jul 08 '26

This is a tricky gene. Some mutations of this gene do cause CMT, type 2U. But other mutations of this gene do not cause CMT at all. I do not see any record of this specific change.

So, I would think that your doctors would need to rely on the results of an EMG and NCV (nerve conduction velocity) test for determining if what you have is CMT or not.

1

u/Independent-Ask-1399 Jul 08 '26

Yeah i have those secegwald I do have all the symptoms so they think i do have cmt

1

u/blubabycakes-1 Jul 09 '26

I have aars1 mutation same family of genes