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Muscle pathology was assessed by means of histochemistry, electron microscopy, PLIN4, p62, LC3, and NBR1 immunofluorescence and\/or western blotting. Detailed characterization of autophagic vacuoles was performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Patients presented around the age of 30 with mild proximal weakness followed by prominent distal weakness in lower legs, eventually spreading to other muscle groups. Muscle biopsies showed unique pathological features characterized by numerous rimmed vacuoles that displayed sarcolemmal features and were located beneath the sarcolemma and within the cytoplasm. Ultrastructural studies showed autophagic vacuoles, replications, and loops of the basal lamina and tubulofilamentous sarcoplasmic inclusions. p62 and NBR1 co\u2010localized with PLIN4 at the sarcolemma and vacuoles. LC3 immunoreactivity and other lysosomal markers were increased at the vacuoles. Targeted long\u2010read sequencing of\n                      <jats:italic>PLIN4<\/jats:italic>\n                      in affected individuals revealed a single expanded allele of 39\u2009\u00d7\u200999 bp repeats in family 1 and of 37\u2009\u00d7\u200999\u2009bp repeats in family 2.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      We characterize two new families suffering from an autosomal dominant myopathy carrying repeat expansions in\n                      <jats:italic>PLIN4<\/jats:italic>\n                      . Subsarcolemmal p62 expression is a powerful although nonspecific marker of this disease. No correlation between the size of the expansion and clinical severity can be clearly established.\n                      <jats:italic>PLIN4<\/jats:italic>\n                      expansions should be considered in the diagnosis of autosomal dominant vacuolar myopathies, especially when sarcolemmal features are present.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70146","type":"journal-article","created":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T15:04:53Z","timestamp":1753196693000},"page":"2136-2151","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Repeat Expansions in\n                    <i>PLIN4<\/i>\n                    Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal 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