Congenital myopathies – nemaline myopathies

Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated with variants in the kelch-like family member 40 gene (KLHL40). To date, patients with NEM8 have only been identified with coding pathogenic variants and almost all have presented with severe disease. Common features include fetal akinesia/hypokinesia, fractures, contractures, dysphagia, respiratory failure, and neonatal death (average age at death ∼5 months). Here, we describe a 26-year-old man with milder NEM8.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: L. Dofash, F. Faiz, E. Servi án-Morilla, E. Rivas, P. Sullivan, E. Oates, J. Clayton, R. Taylor, M. Davis, N. Laing, M. Cabrera-Serrano, G. Ravenscroft Source Type: research