Key result
A novel 1-bp deletion (c.179delC) in the LAMP2 gene was identified in a male patient with Danon disease presenting with massive hypertrophic obstructive cardiomyopathy.
Case Report (n=1)
Identified a novel frameshift mutation (c.179delC) in the LAMP2 gene causing Danon disease in a patient with massive hypertrophic obstructive cardiomyopathy.
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Supports LAMP2 testing in select hypertrophic cardiomyopathy cases; extends mutational spectrum but remains hypothesis-generating.
Regelsberger et al. (2009) conducted a case report in Danon disease (n=1). LAMP2 gene mutation (c.179delC) was evaluated. A novel 1-bp deletion (c.179delC) in the LAMP2 gene was identified in a male patient with Danon disease presenting with massive hypertrophic obstructive cardiomyopathy.
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