The History of a Genetic Disease: Duchenne Muscular Dystrophy or Meryon's Disease

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9780199591473: The History of a Genetic Disease: Duchenne Muscular Dystrophy or Meryon's Disease

Duchenne Muscular Dystrophy is a disease that only affects males, with an incidence of around 1 in 3500 new-born baby boys. Its relentless progress is characterized by loss of the ability to walk by around the age of 10 or 11, leading to a wheelchair life, and death from cardiac and respiratory problems usually around the late teens or early twenties.

Edward Meryon was the first person to give a full and detailed clinical description of what later research knows as Duchenne Muscular Dystrophy. His research identified many facets of the condition which we now take for granted, for example that it only affects males, that it is an inherited condition carried in female genes, that it is a disease of the muscle system, and its causes. Until recently, Meryon has not been given credit for his contribution to the subject. In this book, the history of Duchenne Muscular Dystrophy is traced in detail, and is interwoven with a commentary of Meryon's research which has led to our current understanding of the disease, with full references and informative, historically relevant illustrations.

This book concludes with a summary of the current position regarding diagnosis, prevention through counselling and prenatal diagnosis, and new encouraging approaches to treatment through molecular genetics.

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L'autore:

Over a long career Alan E. H. Emery has published some 400 articles and written or edited 24 books, mainly, but not exclusively, concerned with genetics and neuromuscular disorders. In 1989 he helped found the European Neuromuscular Centre and was its first Research Director and later in 2001 established the Section of Medical Genetics of the Royal Society of Medicine, and became its Founding President. He has received many national and international awards and honorary degrees. In retirement he now has more time for his hobbies of oil painting and writing poetry.

Marcia L. H. Emery was born in Cleveland, Ohio and graduated in Clinical Psychology at Wooster College with an honours year at St. Andrews University, and later an MSc in Information Sciences from Case Western Reserve University. In more recent years her interests have centred on medical history and art history and she has published several articles on these subjects. Like her husband she now has a little more time for her hobbies of needlework and identifying and studying butterflies. The authors live in Devon but retain strong associations with Green Templeton College, Oxford.

Contenuti:

  • Preface
  • 1: The history of Muscular Dystrophy: a unique story
  • 2: Early history of Muscular Dystrophy
  • 3: Edward Meryon's contribution to Muscular Dystrophy
  • 4: The life of Edward Meryon (1807-1880)
  • 5: Duchenne de Boulogne (1806-1875)
  • 6: Refining the clinical picture
  • 7: Resolution of heterogeneity
  • 8: Nosology of the Dystrophies
  • 9: Recognition of other types of Muscular Dystrophy
  • 10: Biochemical diagnosis and carrier detection
  • 11: Pathogenesis of Duchenne dystrophy
  • 12: The search for the gene
  • 13: Current trends and the future

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Emery, Alan E. H.; Emery, Marcia L. H.
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Emery, Alan E. H.; Emery, Marcia L. H.
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Alan E. H. Emery, Marcia L.H. Emery
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Descrizione libro Oxford University Press, United Kingdom, 2011. Hardback. Condizione libro: New. 2nd Revised edition. 236 x 155 mm. Language: English . Brand New Book. Duchenne Muscular Dystrophy is a disease that only affects males, with an incidence of around 1 in 3500 new-born baby boys. Its relentless progress is characterized by loss of the ability to walk by around the age of 10 or 11, leading to a wheelchair life, and death from cardiac and respiratory problems usually around the late teens or early twenties. Edward Meryon was the first person to give a full and detailed clinical description of what later research knows as Duchenne Muscular Dystrophy. His research identified many facets of the condition which we now take for granted, for example that it only affects males, that it is an inherited condition carried in female genes, that it is a disease of the muscle system, and its causes. Until recently, Meryon has not been given credit for his contribution to the subject. In this book, the history of Duchenne Muscular Dystrophy is traced in detail, and is interwoven with a commentary of Meryon s research which has led to our current understanding of the disease, with full references and informative, historically relevant illustrations. This book concludes with a summary of the current position regarding diagnosis, prevention through counselling and prenatal diagnosis, and new encouraging approaches to treatment through molecular genetics. Codice libro della libreria POW9780199591473

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Alan E. H. Emery, Marcia L.H. Emery
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ISBN 10: 0199591474 ISBN 13: 9780199591473
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Descrizione libro Oxford University Press, United Kingdom, 2011. Hardback. Condizione libro: New. 2nd Revised edition. 236 x 155 mm. Language: English . Brand New Book. Duchenne Muscular Dystrophy is a disease that only affects males, with an incidence of around 1 in 3500 new-born baby boys. Its relentless progress is characterized by loss of the ability to walk by around the age of 10 or 11, leading to a wheelchair life, and death from cardiac and respiratory problems usually around the late teens or early twenties. Edward Meryon was the first person to give a full and detailed clinical description of what later research knows as Duchenne Muscular Dystrophy. His research identified many facets of the condition which we now take for granted, for example that it only affects males, that it is an inherited condition carried in female genes, that it is a disease of the muscle system, and its causes. Until recently, Meryon has not been given credit for his contribution to the subject. In this book, the history of Duchenne Muscular Dystrophy is traced in detail, and is interwoven with a commentary of Meryon s research which has led to our current understanding of the disease, with full references and informative, historically relevant illustrations. This book concludes with a summary of the current position regarding diagnosis, prevention through counselling and prenatal diagnosis, and new encouraging approaches to treatment through molecular genetics. Codice libro della libreria POW9780199591473

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