I just came across the following abstract, which reports a way of
diagnosing dysferlin deficiency from a blood sample. The caution is
that this test still needs to be checked out in other laboratories,
and will probably take a while to become more widely available. I
think it is a significant advance, though, to be able to diagnose
patients without requiring a muscle biopsy. Dr. Brown's lab was one
of the two that first discovered the dysferlin gene.

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"A novel, blood-based diagnostic assay for limb girdle muscular
dystrophy 2B and miyoshi myopathy." Ann Neurol 2002 Jan;51(1):129-33

Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, Brown Jr RH.

Day Laboratory for Neuromuscular Research, Massachusetts General
Hospital, Harvard Medical School, Charlestown, Massachusetts.

Limb girdle muscular dystrophy 2B and Miyoshi myopathy were recently
found to be allelic disorders arising from defects in the dysferlin
gene. We have developed a new diagnostic assay for limb girdle
muscular dystrophy 2B and Miyoshi myopathy, which screens for
dysferlin expression in blood using a commercially available
monoclonal antibody. Unlike current methods that require muscle biopsy
for immunodiagnosis, the new method is simple and entails a
significantly less invasive procedure for tissue sampling. Moreover,
it overcomes some of the problems associated with the handling and
storage of muscle specimens. In our analysis of 12 patients with limb
girdle muscular dystrophy 2B or Miyoshi myopathy, the findings
obtained using the new assay are fully consistent with the results
from muscle immunodiagnosis.

PMID: 11782994