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New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.

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0 Published in 2022 at "Folia medica"

DOI: 10.3897/folmed.64.e66292

Abstract: Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (LAMP2). Three main clinical features of this pathology are cardiomyopathy, skeletal… read more here.

Keywords: danon disease; danon; new deletion; deletion lamp2 ... See more keywords