Lein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla, Eloy Rivas, Fathimath Faiz, Patricia Sullivan, Emily Oates, Joshua Clayton, Rhonda L Taylor, Mark R Davis, Traude Beilharz, Nigel G Laing, Macarena Cabrera-Serrano, Gianina Ravenscroft
Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder associated with variants in the kelch-like family member 40 gene (KLHL40). Common features include fetal akinesia, fractures, contractures, dysphagia, respiratory failure, and neonatal death. Here, we describe a 26-year-old man with relatively mild NEM8. He presented with hypotonia and bilateral femur fractures at birth, later developing bilateral Achilles' contractures, scoliosis, and elbow and knee contractures. He had walking difficulties throughout childhood and became wheelchair bound from age 13 after prolonged immobilisation...
November 2, 2022: Human Molecular Genetics