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Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy
Download from doi.orgLoss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
UploadCongenital Titinopathy: Comprehensive characterization and pathogenic insights
UploadA defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Download from www.nature.comCytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods
UploadDe novo missense variants inHECW2are associated with neurodevelopmental delay and hypotonia
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