Key result
Homozygous truncating mutations in MYPN cause a slowly progressive congenital cap myopathy through mRNA defects and reduced full-length protein expression.
Population
2 unrelated families with a slowly progressive congenital cap myopathy
Design
Case_series
Authors
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MYPN screening may aid congenital cap myopathy diagnosis; leaves open dominant variant effects and larger-cohort validation.
Case Report
Recessive mutations in MYPN cause congenital cap myopathy, demonstrating that MYPN mutations can cause either cardiac or skeletal muscle disorders depending on the mode of inheritance.
Lornage et al. (2017) conducted a case report in Congenital cap myopathy. Homozygous truncating mutations in MYPN was evaluated on mRNA defects and reduction in full-length protein expression. Homozygous truncating mutations in MYPN cause a slowly progressive congenital cap myopathy through mRNA defects and reduced full-length protein expression.
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