Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation
The Duchenne muscular dystrophy is one of the most frequent hereditary myopathies that exist. It is characterized by degeneration of the muscle skeletal fibers which produce handicap in the first decade of life bringing about death due to cardiac or respiratory failure. The responsible gene of the d...
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| Format: | Article |
| Language: | Spanish |
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Centro Provincial de Información de Ciencias Médicas. Cienfuegos
2007-05-01
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| Series: | Medisur |
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| Online Access: | http://medisur.sld.cu/index.php/medisur/article/view/247 |
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| author | Humberto Perera Navarro Tatiana Zaldivar-Vaillant Carlos Viñas-Portilla Ariel Medina Concepción Rosa Guerra Badía Mariesky Zayas Guillot |
| author_facet | Humberto Perera Navarro Tatiana Zaldivar-Vaillant Carlos Viñas-Portilla Ariel Medina Concepción Rosa Guerra Badía Mariesky Zayas Guillot |
| author_sort | Humberto Perera Navarro |
| collection | DOAJ |
| description | The Duchenne muscular dystrophy is one of the most frequent hereditary myopathies that exist. It is characterized by degeneration of the muscle skeletal fibers which produce handicap in the first decade of life bringing about death due to cardiac or respiratory failure. The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. An indirect molecular study was performed with the STR-50 polymorphic marker. After the analysis of the results in which the lab methodology was applied, the fetus was found to be sick and the family decided to interrupt the pregnancy. <strong><br /></strong> |
| format | Article |
| id | doaj-art-c46456a10020475bb8ead565f1d991cb |
| institution | Kabale University |
| issn | 1727-897X |
| language | Spanish |
| publishDate | 2007-05-01 |
| publisher | Centro Provincial de Información de Ciencias Médicas. Cienfuegos |
| record_format | Article |
| series | Medisur |
| spelling | doaj-art-c46456a10020475bb8ead565f1d991cb2025-01-30T21:28:38ZspaCentro Provincial de Información de Ciencias Médicas. CienfuegosMedisur1727-897X2007-05-01512325246Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family PresentationHumberto Perera NavarroTatiana Zaldivar-VaillantCarlos Viñas-PortillaAriel Medina ConcepciónRosa Guerra BadíaMariesky Zayas GuillotThe Duchenne muscular dystrophy is one of the most frequent hereditary myopathies that exist. It is characterized by degeneration of the muscle skeletal fibers which produce handicap in the first decade of life bringing about death due to cardiac or respiratory failure. The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. An indirect molecular study was performed with the STR-50 polymorphic marker. After the analysis of the results in which the lab methodology was applied, the fetus was found to be sick and the family decided to interrupt the pregnancy. <strong><br /></strong>http://medisur.sld.cu/index.php/medisur/article/view/247distrofia muscular de duchennediagnòstico prenatal |
| spellingShingle | Humberto Perera Navarro Tatiana Zaldivar-Vaillant Carlos Viñas-Portilla Ariel Medina Concepción Rosa Guerra Badía Mariesky Zayas Guillot Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation Medisur distrofia muscular de duchenne diagnòstico prenatal |
| title | Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation |
| title_full | Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation |
| title_fullStr | Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation |
| title_full_unstemmed | Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation |
| title_short | Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation |
| title_sort | prenatal diagnosis of the duchenne muscular dystrophy a family presentation |
| topic | distrofia muscular de duchenne diagnòstico prenatal |
| url | http://medisur.sld.cu/index.php/medisur/article/view/247 |
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