Duchenne muscular dystrophy /
"Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consu...
Clasificación: | Libro Electrónico |
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Autores principales: | , , |
Formato: | Electrónico eBook |
Idioma: | Inglés |
Publicado: |
Oxford :
Oxford University Press,
2015.
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Edición: | Fourth edition. |
Colección: | Oxford monographs on medical genetics ;
no. 67. |
Temas: | |
Acceso en línea: | Texto completo |
Tabla de Contenidos:
- Symbols and abbreviations
- Introduction to Duchenne muscular dystrophy
- History of the disease
- Clinical features
- Confirmation of the diagnosis
- Differential diagnosis
- Involvement of tissues other than skeletal muscle
- Biochemistry of Duchenne muscular dystrophy
- Genetics
- Molecular pathology
- Pathogenesis
- Prevention
- Genetic counselling
- Management - Appendices. Egen Klassifikation Scale Version (EK2)
- The North Star Ambulatory Assessment
- Muscular dystrophy associations and groups in various countries (2013).