Autosomal recessive desminopathy: an under-recognised disorder.

From the abstract

Myofibrillar myopathies (MFMs) are genetically and clinically heterogeneous muscle disorders characterised by sarcoplasmic protein aggregation and myofibrillar disorganisation arising at the Z-disc. Although pathogenic variants are identifiable in ∼50% of cases, and mutations in 16 genes are now recognised to cause MFM, most reported cases follow an autosomal dominant pattern…