HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype

Genetic variation at HNRNPA2B1 was first implicated in neuromuscular disease in a family with myopathy and Paget's disease, with a frequent co-occurrence of cognitive impairment and motor neurone disease [1]. The clinic-pathological phenotype that was felt to be of a Multi-System Proteinopathy (MSP) [2,3], though variation at HNRNPA2B1 is unlikely to explain many instances of MSP or motor neurone disease [4 –6].

Source: Neuromuscular Disorders - November 15, 2023 Category: Neurology Authors: Liam S Carroll, Sarah Ennis, Nicola Foulds, Simon R Hammans Tags: Case report Source Type: research