NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES: P.333 Progressive proximal muscle weakness, myopathic muscle biopsy and a novel candidate gene

Abstract

More than 200 new Mendelian disease gene discoveries have been published every year since the introduction of next-generation sequencing technologies. To date, almost 600 genes are associated with neuromuscular disorders. We present the phenotype of an Estonian girl harboring variants in a novel muscle disease candidate gene. The female patient was first noted to have exercise intolerance at age 3 years. Two years later, she presented with abnormal gait, toe walking, frequent falls, lumbar hyperlordosis, hyperextention of the knees, and valgus feet.