Evelyn

Tell your friend to contact me at cnminfo@centurytel.net

It is FULLY IMPOSSIBLE to identify a CNM carrier by a biopsy. If I understand your email, it sounds like it is not a possible affected Labrador. They are only checking for carrier status of diseases.

The same is true of any other disease (in addition to CNM) that is an simple recessive. It is impossible to determine what dogs might be carrying as recessives by a muscle biopsy. Therefore your friend is getting very bad information.

There is much more information that goes with this whole topic, but the basic message is that it is a waste of time and money as well as being very invasive and unpleasant for the dog to do a biopsy to try to determine if a dog is a genetic carrier of CNM or any other disease that is a simple recessive.

I am happy to talk to this person directly and see what their problem is. Hopefully they can speak a little English. If not, perhaps I can work with you to translate for him or her.

Please write me privately to put me in contact with your friend. At a minimum please direct the veterinarian to read our web site at www.labradorcnm.com

Marilyn Fender, CNM Global Communications Coordinator
cnminfo@centurytel.net

 

but this is what a vet told us at a breeder reunion 2 and a half years ago...
may be you can´t see cnm at a musclebiopsie...
and that it is possible with other typs of myopathie...

I think about given them your email adresse, but for now not be sure, if this might be a good idea....;-)

the test was also made not at your house, but at laboklin.
the male is 8 y/o, was tested when he was 6 y/o..


lg evelyn

 

Evelyn

The veterinarian who told you that at a breeder meeting was wrong. It is too bad they did not check their information. Now many people have bad information.

There are NO recessive carriers of diseases that can be identified by a biopsy. It does not matter what disease or what laboratory did the test. A recessive is within the DNA of a cell. There are no physical symptoms evident with a simple autosomal recessives.

A biopsy cannot look into the DNA of a cell --- only at the picture of a cross-section of the cell construction. Biopsies are very valuable for many purposes, but not for identifying the content of DNA within a cell --- let alone one mutation. It is impossible to see as DNA is a collection of millions of very very tiny locations in the DNA that is extremely smaller than the point of a pin.

If you do not believe me, look at the web sites we provide in the genetics section of www.labradorcnm.com where you can look at what is said by the USA Human Genome Project as well as by the Canine Genome researchers.

I would be happy to talk to that veterinarian and update their information.
Please write me privately to further discuss this.

Best regards,
Marilyn Fender
CNM Global Communications Coordinator
cnminfo@centurytel.net

 

I would be happy to talk to that veterinarian and update their information.
Please write me privately to further discuss this.

Best regards,
Marilyn Fender
CNM Global Communications Coordinator
cnminfo@centurytel.net

I have send the url of this thread to that lady... so if she want to contact you, it is up to her

we, you and me, just had an email exchange not long ago;-)

thanks for now

evelyn

 

Marilyn, I think Evelyn is getting at that there may be some other disease (of different genetic inheritance) that may be possible to assess via the biopsy.

However, there is an assumption being made that this other disease (or diseases) somehow correlates to the presence of the cnm mutation in cnm carriers. That seems like a nebulous assertion without the data to back it up.

 

Marilyn, I think Evelyn is getting at that there may be some other disease (of different genetic inheritance) that may be possible to assess via the biopsy.

.

in fact it was a vet, who just said so...
that you can identify myopathie carriers via muscle biobsie


lg evelyn

 

Myotubular myopathy (a rare condition also known as centronuclear myopathy) can be diagnosed in humans with a muscle biopsy. There's information on this Swiss site:

http://signavitae.com/index.php?option=com_content&task=view&id=4&Itemid=6

And here is an abstract from Cambridge University Press: (emphasis mine)
In children with a myopathy, muscle biopsy, together with the clinical presentation, can guide further investigations. The presence of centrally located nuclei suggests a myotubular myopathy, and gene testing may confirm this diagnosis. We describe a male child with a mild form of X-linked myotubular myopathy for which repeated muscle biopsy did not show the characteristic pattern of centrally located nuclei. Myotubular myopathy was not contemplated, therefore, until a maternally related relative was shown to have the disorder. Genetic testing showed that the index case carried the same mutation in his MTM1 gene as this relative.

And a pdf from the University of Chicago with more information on this same issue:
http://genes.uchicago.edu/LabPDF/01MTM1.pdf

And the abstract from the American Academy of Neurology:
http://www.neurology.org/cgi/content/abstract/68/3/181

It's pretty clear from reading these that regardless of what this veterinarian may have said or thought, that muscle biopsies are not the gold standard for making a dx of CNM. They can be a guide. But they are also painful and invasive, neither of which is the case for a blood draw, which gives the geneticist actual DNA code to study for gene mutation.

P.S. Evelyn, there are websites that translate any number of languages into and from English. I have found them very useful when trying to communicate complicated ideas to people who don't speak the same language I do. Here are a couple: http://babelfish.yahoo.com/
http://www.rock3.co.uk/translate.shtml

 

P.S. Evelyn, there are websites that translate any number of languages into and from English. I have found them very useful when trying to communicate complicated ideas to people who don't speak the same language I do.

thanks, but what is not clear???

 

Larkin,

Wow you sure are demanding....geeze have a little tolerance for others....I know when I visted Germany and a dog event there, everyone was extrememly nice to me even though I did not speak a lick of German.....they took the time to answer my questions even if my grammer and spelling was not accurate. Yeah I had to read Evelyn's post twice, but I sure am not going to harass her because her English is not perfect. I grew up in the US and my English is horrible....

Just Saying....

FOM

 

Did you even read my post? It's in English, LOL.

I said to Evelyn that I offered the sites to be helpful, not as insult, because she is trying to communicate about a complex issue. I went on to say that her English was far superior to what most of us could do in her own native language (which could be German or Schweizerdeutsche or some other language that uses "portmanteau" constructions.)

Just trying to be helpful, you don't have to burn me for it.

 

I own a CNM carrier ,,,,,Her sire was CNM clear and her dam was a carrier BUT its NOT a death sentence being a carrier . If you want to breed her just make sure you breed to a Clear sire ,,,,,some pups will be clear and some will be carriers .

 

There was the comment -- quote follows:

"Myotubular myopathy (a rare condition also known as centronuclear myopathy) can be diagnosed in humans with a muscle biopsy. There's information on this Swiss site:"

Of course the actual disease might be looked at by a biopsy if there is a disabled human.
What was being talked about in the first email was carrier status in canines-- that is quite different from affected canine or human status.

However -- even in affected status for CNM, the DNA evaluation to determine the disease is a better option than a biopsy option in dogs.

In humans there is research being done regarding that parallel disease to CNM in dogs. It was one of the reasons that the CNM disease in dogs was being supported by the French Association for Myopathies --- for the end goal of eventually helping humans.

As pointed out --- the word myopathy is related to many diseases. My email was to correct what appeared to be a mis-understanding that carrier status of a simple recessive could be detected by a canine biopsy. It cannot be. There is no simple autosomal recessive of any disease carrier status that can be detected by a muscle biopsy.

Thanks for reading
Marilyn

 

Ihre (or is it Ihr?) Deutsch ist sehr gut!

 

Meine Deutsch ist keine Deutsch! Est is sehr schlecht! LOL!

Lisa

 

Dang, where were you two when we went to Germany?

I'm just glad in England, Australia, and New Zealand they all spoke English! Have to say though, their accents take a few hours to get use to, not to mention their humor!

FOM