| Autor: |
Fernández, Luis, Casamayor Polo, Laura, Bravo García‐Morato, María, Enguita Valls, Ana Belén, Ruiz‐Bravo, Elena, Muñoz‐Cabello, Patricia, Ibáñez, Kristina, Rodríguez‐Laguna, Lara, Martín‐Arenas, Rubén, Ortega, Marta, Palomares‐Bralo, María, Pozo, Ángela, García‐Guereta, Luis, García‐Miñaúr, Sixto, Lapunzina, Pablo, Vallespín, Elena |
| Předmět: |
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| Zdroj: |
Clinical Genetics; Mar2021, Vol. 99 Issue 3, p481-483, 3p |
| Abstrakt: |
Danon disease (DD) is a rare glycogen storage disorder with mainly cardiac, neuromuscular, and intellectual involvement, secondary to systemic lysosome-associated membrane protein-2 (Lamp-2) deficiency due to loss-of-function mutations in I LAMP2 i . Successful XCI pattern-disease severity correlations have been observed in DD females,3,4 while discordances are assumed as unrelated or tissue specific.5 In our significantly young patient, inconclusive, nonskewed 57:43 and 49:51 patterns of inactivation were serially obtained in blood and heart samples, respectively. Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. [Extracted from the article] |
| Databáze: |
Complementary Index |
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