Key result
Mutations in alphaTm(slow) reduced betaTm protein levels and the formation of the preferred alpha/beta heterodimer in human patients and a transgenic mouse model of nemaline myopathy.
Population
Human patients with mutations in alphaTm and a transgenic mouse model of alphaTm nemaline myopathy, along…
Design
Preclinical
Authors
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May indicate early diagnostic marker in nemaline myopathy; leaves open whether targeting heterodimer formation modifies progression.
Reduction in betaTm levels represents an early diagnostic marker for alphaTm(slow)-based mutations in nemaline myopathy, altering sarcomeric thin filament dynamics.
Corbett et al. (2004) studied Nemaline myopathy. alphaTm(slow) mutation was evaluated on betaTm protein levels and tropomyosin dimer formation. Mutations in alphaTm(slow) reduced betaTm protein levels and the formation of the preferred alpha/beta heterodimer in human patients and a transgenic mouse model of nemaline myopathy.
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