WebAn autosomal recessive congenital myopathy characterized by onset at birth, or early in infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected individuals become ventilator-dependent, and … WebMEGF10; congenital myopathy; novel variants; splicing; convex scoliosis; butterfly vertebrae; atelectasis; bronchiectasis; flexion deformity; subluxation Graphical Abstract 1. Introduction Congenital myopathies (CMs) are rare inherited conditions with a broad phenotypic and genetic diversity.
Congenital myopathy associated with a novel mutation in MEGF10 …
WebMYH7‑related forms20,25. MEGF10related myopathies have a wide clinical spectrum, ranging from a severe earlyonset myopathy with areflexia, respiratory dis tress and … Web1 jan. 2024 · Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported in a severe early onset disorder named Early Myopathy, Areflexia, … chulmleigh gp surgery
Myopathic features of megf10 morphant zebrafish muscle....
Web2 apr. 2024 · Introduction. MEGF10 myopathy, originally described as early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) (), is a congenital myopathy/muscular dystrophy that is caused by mutations in MEGF10 (), a gene that is expressed in myoblasts and muscle satellite cells ().The classic EMARDD phenotype … Web10 nov. 2024 · MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. Harris E, Marini-Bettolo C, Töpf A, Barresi R, Polvikoski T, Bailey G, Charlton R, Tellez J, MacArthur D, Guglieri M, Lochmüller H, Bushby K, Straub V Web15 jul. 2024 · MEGF10 myopathy is a rare inherited muscle disease that is named after the causative gene, MEGF10. The classic phenotype, early onset myopathy, areflexia, … deswik head office