Re: Neurofilament light chain polypeptide gene mutations in CMT: nonsens

[Guest guest]

Elinor,

When did your husband have the DNA test? Have you got a list of the

types he was tested for? There have been added 'types' recently,

however not all have tests yet. I think Type 2L (testing in the Czech Republic)

and Type X5 (Rosenberg-Chutorian Syndrome - testing in Germany) are the most

recent.

See http://www.genetests.org/servlet/access?

id=8888891 & testtype=both & qry=charcot+marie+tooth & submit=Search & showgloss

arylinks=yes & db=genetests & fcn=b & res= & key=7WRNgaITH8KuJ & testtype=both & typ

e=e & ls=c & grp=b & submit=Search

Perhaps your son should speak to a genetic counselor knowledgeable about CMT

inheritance.

Gretchen