Prevalence and ancestral origin of the c.1987delC GAA gene mutation causing Pompe disease in Central Mexico
| Autor: | Victor Acuña-Alonzo, Alessandra Carnevale, Antonio Bravo-Oro, Arturo Rojo-Domínguez, Sandra Rosas-Madrigal, Teresa Villarreal-Molina, Carmen Esmer, Rafael Velázquez-Cruz, Sandra Romero-Hidalgo, Adriana Grijalva-Pérez |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Genetics chemistry.chemical_classification Glycogen accumulation Mexican origin Disease Gene mutation Biology 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Enzyme chemistry Respiratory system 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | Meta Gene. 15:60-64 |
| ISSN: | 2214-5400 |
| DOI: | 10.1016/j.mgene.2017.11.005 |
| Popis: | Pompe Disease (PD) is a rare autosomal recessive disorder caused by lysosomal enzyme acid-alpha-glucosidase (GAA) deficiency, which leads to lysosomal glycogen accumulation, swelling, cellular damage and dysfunction of cardiac, respiratory and muscular tissue. In Mexico, 95% of their genetic component was of Native Mexican origin, while |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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