New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.
| Autor: | Sivitskaya L; Genomed Health Care Centre, Diagnostic Department, Warsaw, Poland., Vaikhanskaya T; Republican Scientific and Practical Center of Cardiology, Minsk, Belarus., Danilenko N; Institute of Genetics and Cytology, National Academy of Sciences, Minsk, Belarus., Liaudanski A; Institute of Genetics and Cytology, National Academy of Sciences, Minsk, Belarus., Davydenko O; Institute of Genetics and Cytology, National Academy of Sciences, Minsk, Belarus., Zhelev N; University of Dundee, Dundee, United Kingdom. |
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| Jazyk: | angličtina |
| Zdroj: | Folia medica [Folia Med (Plovdiv)] 2022 Oct 31; Vol. 64 (5), pp. 853-862. |
| DOI: | 10.3897/folmed.64.e66292 |
| Abstrakt: | 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. (This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.) |
| Databáze: | MEDLINE |
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