Key result
A novel protein aggregate myopathy with hypertrophic cardiomyopathy is caused by a homozygous TRIM63 null mutation combined with a heterozygous TRIM54 mutation.
Case Report (n=8)
Identifies a novel cardiac and skeletal protein aggregate myopathy caused by combined mutations in TRIM63 and TRIM54 (MuRF1 and MuRF3).
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Suggests TRIM63/TRIM54 screening in select myopathy-HCM cases; leaves open prevalence and causality pending replication.
Olivé et al. (2015) conducted a case report in Protein aggregate myopathy with hypertrophic cardiomyopathy (n=8). A novel protein aggregate myopathy with hypertrophic cardiomyopathy is caused by a homozygous TRIM63 null mutation combined with a heterozygous TRIM54 mutation.
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