>>12682612>>12680101>>12680235>>12680328Ok finally done seeing patients.
So one thing to say is just because you're a carrier doesn't mean you can't present with symptoms. For example, the most famous example is sickle cell trait leading to hyposthenuria.
The next thing is genetic disorders that deal with structural elements like collagen often have a characteristic known as dominant negative mutations where the ineffective/abnormal gene product from the recessive allele can cause a detriment to the function of the wild-type allele's gene product. Common example is osteogenesis imperfecta. I read up on COL6A1/2/3 mutations and they show this dominative negative characteristic as well.
You likely have Bethlem myopathy because it's the milder form and you are probably not less than 13 posting on 4chan because it's naughty and Ulrich's causes kids to be wheel-chair bound in their first decade of life.
Bethlem myopathy has shown to have autosomal dominant, autosomal recessive, and compound heterozygous mutations as well (COL6A2 predominantly). Compound heterozygous means having two different mutated alleles leading to disease which can sometimes show up as autosomal recessive in basic tests.
So the reason for your test result is
A) the test associated the gene with Ulrich's and auto gave you an AR result even though you might not be
B) test associated mutation with a known Bethlem myopathy mutation that is AR but you actually have the AD version
C) you have an AR mutation but dominant negative phenotype leading to presentation of disease
D) you have a compound heterozygote condition which was read as AR
I think C and D are more likely.
(1/2)
