Hi All,
Just thought I would point out that Dr. Bob Brown has developed an
antibody-based test for dysferlin deficiency that can be used on
blood samples (no need for an invasive, uncomfortable muscle
biopsy!). He is apparently offering the test for free on an
experimental basis right now, but plans to try to commercialize the
test later. Brad, of course, has already posted the reference on his
Web site:
"A novel, blood-based diagnostic assay for limb girdle muscular
dystrophy 2B and miyoshi myopathy" (Annals of Neurology, 2002, Jan.,
51:129-33.
But here is the information to get in touch with Dr. Brown if you are
interested in learning more about this experimental test:
> Robert H. Brown, Jr., MD
> Day Lab, MGH-East, Room 3125
> Bldg 114, 16th Street
> Navy Yard, Charlestown, MA 02129
> Ph 617-726-5750
> Fx 617-726-8543
Best Wishes,
Sharon
Sharon Hesterlee, Ph.D.
Director of Research Development
Muscular Dystrophy Association
shesterlee@...
(520) 529-5433