Article
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.
Human molecular genetics - 15 May 2011
Ottenheijm Coen A C, Lawlor Michael W, Stienen Ger J M, Granzier Henk, Beggs Alan H
Abstract excerpt
Nemaline myopathy, the most common non-dystrophic congenital myopathy, is caused by mutations in six genes, all of which encode thin-filament proteins, including NEB (nebulin) and TPM3 (α tropomyosin). In contrast to the mechanisms underlying weakness in NEB-based myopathy, which are related to loss of thin-filament functions normally exerted by nebulin, the pathogenesis of muscle weakness in patients with TPM3...
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