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Mutations in the prion‐like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ANXA11 have been… Click to show full abstract
Mutations in the prion‐like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ANXA11 have been reported in patients with amyotrophic lateral sclerosis and multisystem proteinopathy. Here we studied families with an autosomal dominant muscle disease caused by ANXA11:c.118G > T;p.D40Y.
Keywords:
dominant muscular;
adult onset;
onset dominant;
muscular dystrophy;
dystrophy greek;
greek families
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2022
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!