Article
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Human molecular genetics - 20 Mar 2023
Dofash Lein N H, Monahan Gavin V, Servián-Morilla Emilia, Rivas Eloy, Faiz Fathimath, Sullivan Patricia, Oates Emily, Clayton Joshua, Taylor Rhonda L, Davis Mark R, Beilharz Traude, Laing Nigel G, Cabrera-Serrano Macarena, Ravenscroft Gianina
Abstract excerpt
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...
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