Altered Splicing of <i>LAMP2</i> in a Multigenerational Family from Latvia Affected by Danon Disease

Altered Splicing of <i>LAMP2</i> in a Multigenerational Family from Latvia Affected by Danon Disease

<i>Background and Objectives</i>: Danon disease is a multisystemic disorder associated with variants in the <i>LAMP2</i> gene, mainly affecting the cardiac muscle. Here, we report a multigenerational family from Latvia with two male patients, hemizygous for a novel splice-aff...

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Bibliographic Details
Main Authors: Janis Stavusis, Ieva Micule, Ieva Grinfelde, Anna Zdanovica, Janis Pudulis, Sandra Valeina, Svetlana Sepetiene, Baiba Lace, Inna Inashkina
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:Medicina
Subjects:
<i>LAMP2</i>
Danon disease
altered splicing
Online Access:https://www.mdpi.com/1648-9144/60/1/99

Internet

https://www.mdpi.com/1648-9144/60/1/99

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