Articles with "plin4" as a keyword



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Subsarcolemmal and cytoplasmic p62 positivity and rimmed vacuoles are distinctive for PLIN4 ‐myopathy

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Published in 2022 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51666

Abstract: PLIN4‐myopathy is a recently identified autosomal dominant muscular disorder caused by the coding 99 bp repeat expansion in PLIN4, presenting with distal or proximal weakness. Here, we report one family and one sporadic case of adult‐onset… read more here.

Keywords: rimmed vacuoles; plin4 myopathy; subsarcolemmal cytoplasmic; p62 ... See more keywords