A family with Danon disease caused by a splice site mutation in LAMP 2 that generates a truncated protein
2019
Background
Danon disease is an X‐linked dominant hereditary condition caused by mutations in the gene encoding lysosomal‐associated membrane protein 2 (LAMP2), leading to failure of lysosome binding to autophagosomes, accumulation of glycogen in the heart, and abnormal cardiac function.
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