Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11

Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11
Ann Clin Transl Neurol. 2022 Sep 22. doi: 10.1002/acn3.51665. Online ahead of print.ABSTRACTOBJECTIVE: 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 ... read more
Source: PubMedPublished on 2022-09-22By Mridul Johari