Myopathy
Studies from A.K. Lampe et al in the area of myopathy described
Published in Pain and Central Nervous System Week, September 8th, 2008
"UCMD was originally regarded as an exclusively autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity. We and others have subsequently modified this model when we described UCMD patients with heterozygous in-frame deletions acting in a dominant-negative way. Here...
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