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Article

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency

14 Feb 2018

Abstract excerpt

Lysosomal associated membrane protein 2 (LAMP2) is physiologically implicated in autophagy. A genetic LAMP2 defect causes Danon disease, which consists of two major phenotypes of myopathy and cardiomyopathy. In addition, arteriopathy may manifest on rare occasions but the pathological basis remains unknown. We encountered two Danon families that developed small-vessel vasculopathy in the coronary or cerebral...

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PMID: 29463847
DOI: 10.1038/s41598-018-21602-8

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