Article
Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations.
Annals of neurology - 1 Apr 2001
Li M, Dalakas M C
Abstract excerpt
Muscle proteins were extracted in various sodium dodecyl sulfate buffers from 6 patients with myofibrillar myopathy (MFM) and previously identified with mutations in the desmin gene (desmin myopathy; DesM), 6 with MFM without mutations, and 14 disease controls to search for alterations in biochemistry and solubility of mutated desmin filaments. In the 1% posthigh-speed pellet fraction, desmin was detected with...
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