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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… Click to show full 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 myopathy, and mental retardation. Most Danon disease mutations create premature stop codons resulting in the decrease or absence of LAMP2 protein.
Keywords:
danon disease;
danon;
new deletion;
deletion lamp2
Journal Title: Folia medica
Year Published: 2022
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Journal Title: Folia medica
Year Published: 2022
Link to full text (if available)
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recommendations!