Key result
Homozygous mice with the MYH4(L342Q) mutation develop hindlimb paralysis from Day 13 due to rapid accumulation of protein aggregates, whereas heterozygous mice remain indistinguishable from controls.
The L342Q mutation in MYH4 causes myofibrillar myopathy in mice through protein aggregation, sharing a pathogenic pathway with human conformational protein diseases of skeletal muscle.
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Provides mouse model of MYH4(L342Q) myopathy via aggregates; leaves open translation to human conformational protein diseases.
Kurapati et al. (2011) studied Myofibrillar myopathy. MYH4(L342Q) mutation vs. Wild-type/control mice was evaluated on Development of hindlimb paralysis and myofibrillar degeneration. Homozygous mice with the MYH4(L342Q) mutation develop hindlimb paralysis from Day 13 due to rapid accumulation of protein aggregates, whereas heterozygous mice remain indistinguishable from controls.