There is a condition referred to as "distal anterior compartment myopathy" (DACM) which is very similar to Miyoshi myopathy except that the first muscles affected are the muscles in the front of the calf, rather than in the back. ...
http://www.jain-foundation.org/faq.php#10
The cystic fibrosis gene was identified in 1989. Since then, a great deal has been learned about this gene and its protein product. The biochemical abnormality in CF results from a mutation in a gene that produces a protein responsible for ...
http://www.healthnewsflash.com/conditions/cystic_fibros...
A duplicate gene is not a mutation, nor is it caused by a mutation. Genes can be duplicated by unequal crossing-over when homologous chromosomes are mismatched. A duplicate gene may sometimes cause problems due to over-expression of the par...
http://answers.yahoo.com/question/index?qid=20100119143...
No. Some 5–10% of morbid obesity (BMI of 40 or more) is due to defects in the above genes and in other genes that function in the brain circuits, including that encoding the neuropeptide BDNF. This is an unusually high frequency for the M...
http://heartsafetytips.blogspot.com/2009/05/obesity-and...
Yes, in a two part system. We first screen the DNA for known mutations using our LIPOchip. If there is an indication that the DNA contains a variation not on our LIPOchip we then sequence the sample. This will identify any LDLR variations n...
http://www.progenika.com/eu/index.php?option=com_conten...
Not every gene mutation causes alteration in the composition of the protein the gene codifies. Since the genetic code is degenerated, i.e., there are amino acids codified by more than one different DNA nucleotide triplet, if by chance the m...
http://www.biology-questions-and-answers.com/karyotype....
We identified two novel heteroplasmic mitochondrial DNA point mutations in the gene encoding the ND5 subunit of complex I: a 12770A --> G transition identified in a patient with MELAS (mitochondrial encephalomyopathy with lactic acidosis...
http://www.medscape.com/medline/abstract/12509858